125 results match your criteria Loose Anagen Syndrome


Oral minoxidil treatment for hair loss: A review of efficacy and safety.

J Am Acad Dermatol 2020 Jul 1. Epub 2020 Jul 1.

Dr. Phillip Frost Department of Dermatology and Cutaneous Surgery, University of Miami School of Medicine. Electronic address:

Background: Although topical minoxidil is an effective treatment option for hair loss, many patients are poorly compliant due to the necessity to apply the medication twice a day, undesirable hair texture, and scalp irritation.

Objective: In recent years, oral minoxidil at low dose has been proposed as a safe alternative. This study reviewed articles in which oral minoxidil was utilized to treat hair loss to determine its efficacy and safety as an alternative to topical minoxidil. Read More

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http://dx.doi.org/10.1016/j.jaad.2020.06.1009DOI Listing

A Case of Familial Trichomegaly with Synophrys in Association with Loose Anagen Syndrome.

Indian Dermatol Online J 2020 Mar-Apr;11(2):263-265. Epub 2020 Mar 9.

Department of Pathology, Dr. Ram Manohar Lohia and Post Graduate Institute of Medical Education and Research, New Delhi, India.

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http://dx.doi.org/10.4103/idoj.IDOJ_16_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7247634PMC

A case report of Noonan syndrome-like disorder with loose anagen hair 2 treated with recombinant human growth hormone.

Am J Med Genet A 2020 Jun 1. Epub 2020 Jun 1.

Growth, Development, and Mental health of Children and Adolescence Center, Children's Hospital of Chongqing Medical University, Chongqing, China.

Protein phosphatase 1 catalytic subunit beta (PPP1CB) is a disease-causing gene of Noonan-like syndrome, which acts via the RAS/MAPK pathway. To date, only 17 patients diagnosed with PPP1CB-related Noonan-like syndrome have been reported around the world, with few reports in Asia. Twelve reported patients are of short stature and only one patient was treated with growth hormone (GH); however, follow-up data is lacking. Read More

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http://dx.doi.org/10.1002/ajmg.a.61638DOI Listing

A girl with loose anagen hair syndrome and concurrent uncombable hair syndrome.

JAAD Case Rep 2020 Feb 17;6(2):92-95. Epub 2020 Jan 17.

Henry Ford Department of Dermatology, Detroit, Michigan.

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http://dx.doi.org/10.1016/j.jdcr.2019.07.033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7005335PMC
February 2020

ADA2 deficiency in a patient with Noonan syndrome-like disorder with loose anagen hair: The co-occurrence of two rare syndromes.

Am J Med Genet A 2019 12 4;179(12):2474-2480. Epub 2019 Oct 4.

Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Noonan syndrome-like disorder with loose anagen hair (NS/LAH) is one of the RASopathies, a group of clinically related developmental disorders caused by germline mutations in genes that encode components acting in the RAS/MAPK pathway. Among RASopathies, NS/LAH (OMIM 607721) is an extremely rare, multiple anomaly syndrome characterized by dysmorphic facial features similar to those observed in Noonan syndrome along with some distinctive ectodermal findings including easily pluckable, sparse, thin, and slow-growing hair. ADA2 deficiency (DADA2, OMIM 615688) is a monogenic autoinflammatory disorder caused by homozygous or compound heterozygous mutations in ADA2, with clinical features including recurrent fever, livedo racemosa, hepatosplenomegaly, and strokes as well as immune dysregulation. Read More

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http://dx.doi.org/10.1002/ajmg.a.61363DOI Listing
December 2019
1 Read
2.159 Impact Factor

Expert consensus on the management of Telogen Effluvium in India.

Int J Trichology 2019 May-Jun;11(3):107-112

Derma Skin Cosmetic and Laser Clinic, Nagpur, Maharashtra, India.

Alopecia, a frequently reported problem, severely impacts the quality of life of patients and is often associated with loss of confidence and low self-esteem. Several conditions such as telogen effluvium (TE), anagen effluvium, diffuse type of alopecia areata, female pattern hair loss, hair shaft abnormalities, loose anagen hair syndrome, and congenital atrichia or hypotrichosis are associated with hair loss. The actual prevalence rate of TE is not reported since most cases are subclinical in nature. Read More

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http://dx.doi.org/10.4103/ijt.ijt_23_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6580807PMC
July 2019
4 Reads

A Case of Loose Anagen Hair Syndrome in a Southeast Asian Boy.

Case Rep Dermatol 2019 May-Aug;11(2):204-208. Epub 2019 Jul 3.

Division of Dermatology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.

Loose anagen hair syndrome is an uncommon hair disorder, particularly in non-Caucasian children. We report the case of a 13-year-old Thai boy who presented with a single patch of hair thinning on the frontal scalp with excessive shedding, and the hairs did not grow long. Microscopic examination showed naked anagen bulbs with ruffling of the cuticle, which is compatible with loose anagen hair syndrome. Read More

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http://dx.doi.org/10.1159/000501443DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6639585PMC
July 2019
5 Reads

Antenatal diagnosis of cardio-facio-cutaneous syndrome: Prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. About a case and review of literature.

Eur J Obstet Gynecol Reprod Biol 2019 Sep 16;240:232-241. Epub 2019 Jul 16.

Center for Human Genetics, Saint-Luc University Hospital, UCL, Brussels, Belgium.

Antenatal diagnosis of cardio-facio-cutaneous syndrome: prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. This paper is a case study and review of literature. "RASopathies" is the term coined for a group of genetic diseases that share modulation inside the MAPKinase pathway. Read More

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http://dx.doi.org/10.1016/j.ejogrb.2019.06.035DOI Listing
September 2019
7 Reads

Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy.

Hum Mutat 2019 08 6;40(8):1046-1056. Epub 2019 May 6.

Molecular Genetics Unit, Fondazione Casa Sollievo della Sofferenza, IRCCS, San Giovanni Rotondo, Italy.

SHOC2 is a scaffold protein mediating RAS-promoted activation of mitogen-activated protein kinase (MAPK) signaling in response to extracellular stimuli. A recurrent activating mutation in SHOC2 (p.Ser2Gly) causes Mazzanti syndrome, a RASopathy characterized by features resembling Noonan syndrome and distinctive ectodermal abnormalities. Read More

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http://dx.doi.org/10.1002/humu.23767DOI Listing
August 2019
8 Reads

Loose Anagen Syndrome: A Little Response to Minoxidil.

Int J Trichology 2019 Mar-Apr;11(2):89-91

Department of Dermatology, Mohammed V Military Hospital, Rabat, Morocco.

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http://dx.doi.org/10.4103/ijt.ijt_100_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6463455PMC
April 2019
3 Reads

Recurrent Erythema Nodosum in a Child with a Gene Mutation.

Yonago Acta Med 2019 Mar 28;62(1):159-162. Epub 2019 Mar 28.

Division of Child Neurology, Department of Brain and Neurosciences, School of Medicine, Tottori University Faculty of Medicine, Yonago 683-8504, Japan.

We report the case of a 6-year-old male who developed recurrent erythema nodosum (EN) at the age of 3 years. The patient exhibited hypertelorism, low-set ears, micrognathia, moderate intellectual disability, thin long fingers, loose anagen hair, and prominent palmoplantar wrinkles. A heterozygous single nucleotide variant in the gene (c. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6437419PMC
March 2019
28 Reads

Hematopoietic and neural crest defects in zebrafish shoc2 mutants: a novel vertebrate model for Noonan-like syndrome.

Hum Mol Genet 2019 02;28(3):501-514

Department of Molecular and Cellular Biochemistry, University of Kentucky, Lexington, KY, USA.

The extracellular signal-related kinase 1 and 2 (ERK1/2) pathway is a highly conserved signaling cascade with numerous essential functions in development. The scaffold protein Shoc2 amplifies the activity of the ERK1/2 pathway and is an essential modulator of a variety of signaling inputs. Germline mutations in Shoc2 are associated with the human developmental disease known as the Noonan-like syndrome with loose anagen hair. Read More

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https://academic.oup.com/hmg/advance-article/doi/10.1093/hmg
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http://dx.doi.org/10.1093/hmg/ddy366DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6337701PMC
February 2019
6 Reads
6.393 Impact Factor

Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework.

Hum Mutat 2018 11;39(11):1485-1493

Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.

The RASopathies are a complex group of conditions regarding phenotype and genetic etiology. The ClinGen RASopathy Expert Panel (RAS EP) assessed published and other publicly available evidence supporting the association of 19 genes with RASopathy conditions. Using the semiquantitative literature curation method developed by the ClinGen Gene Curation Working Group, evidence for each gene was curated and scored for Noonan syndrome (NS), Costello syndrome, cardiofaciocutaneous syndrome, NS with multiple lentigines, and Noonan-like syndrome with loose anagen hair. Read More

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http://doi.wiley.com/10.1002/humu.23624
Publisher Site
http://dx.doi.org/10.1002/humu.23624DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6326381PMC
November 2018
12 Reads

Cleft palate and hypopituitarism in a patient with Noonan-like syndrome with loose anagen hair-1.

Am J Med Genet A 2018 09 21;176(9):2024-2027. Epub 2018 Sep 21.

Department of Pediatrics, Division of Genetics and Metabolism, University of North Carolina School of Medicine, Chapel Hill, North Carolina.

Noonan syndrome (NS), the most common of the RASopathies, is a developmental disorder caused by heterozygous germline mutations in genes encoding proteins in the RAS-MAPK signaling pathway. Noonan-like syndrome with loose anagen hair (NSLH, including NSLH1, OMIM #607721 and NSLH2, OMIM #617506) is characterized by typical features of NS with additional findings of macrocephaly, loose anagen hair, growth hormone deficiency in some, and a higher incidence of intellectual disability. All NSLH1 reported cases to date have had an SHOC2 c. Read More

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http://doi.wiley.com/10.1002/ajmg.a.40432
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http://dx.doi.org/10.1002/ajmg.a.40432DOI Listing
September 2018
11 Reads

Epileptic spasms in PPP1CB-associated Noonan-like syndrome: a case report with clinical and therapeutic implications.

BMC Neurol 2018 Sep 20;18(1):150. Epub 2018 Sep 20.

Division of Pediatrics Neurology, China Medical University, Children's Hospital, Taichung, Taiwan.

Background: Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2) is an extremely rare disease caused by a heterozygous mutation in the PPP1CB gene on chromosome 2p23. The syndrome causes not only numerous dysmorphic features but also hypotonia, developmental delay, and even intellectual disability. We report the first case of NSLH2 in Asia and the 16th in the world. Read More

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http://dx.doi.org/10.1186/s12883-018-1157-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6148994PMC
September 2018
10 Reads

Morroniside regulates hair growth and cycle transition via activation of the Wnt/β-catenin signaling pathway.

Sci Rep 2018 09 13;8(1):13785. Epub 2018 Sep 13.

Department of Dermatology, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China.

Hair loss is characterized by a shortened hair anagen phase and hair follicles (HF) miniaturization. Morroniside is the most abundant iridoid glycoside extracted from Cornus officinalis and has various bioactivities in different cell functions and tissue regeneration. In this study, we investigated the effects and the underlying mechanism of morroniside on hair growth and regulation of HF cycle transition. Read More

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http://dx.doi.org/10.1038/s41598-018-32138-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6137235PMC
September 2018
4 Reads

The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway.

Endocr Rev 2018 10;39(5):676-700

INSERM UMR 1048, Institute of Cardiovascular and Metabolic Diseases (I2MC), University of Toulouse Paul Sabatier, Toulouse, France.

Noonan syndrome [NS; Mendelian Inheritance in Men (MIM) #163950] and related syndromes [Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome; MIM #151100), Noonan-like syndrome with loose anagen hair (MIM #607721), Costello syndrome (MIM #218040), cardio-facio-cutaneous syndrome (MIM #115150), type I neurofibromatosis (MIM #162200), and Legius syndrome (MIM #611431)] are a group of related genetic disorders associated with distinctive facial features, cardiopathies, growth and skeletal abnormalities, developmental delay/mental retardation, and tumor predisposition. NS was clinically described more than 50 years ago, and disease genes have been identified throughout the last 3 decades, providing a molecular basis to better understand their physiopathology and identify targets for therapeutic strategies. Most of these genes encode proteins belonging to or regulating the so-called RAS/MAPK signaling pathway, so these syndromes have been gathered under the name RASopathies. Read More

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http://dx.doi.org/10.1210/er.2017-00232DOI Listing
October 2018
54 Reads

Systemic lupus erythematosus in a patient with Noonan syndrome-like disorder with loose anagen hair 1: More than a chance association.

Am J Med Genet A 2018 07 7;176(7):1662-1666. Epub 2018 May 7.

Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.

Systemic lupus erythematosus (SLE) has been reported among patients with RASopathy. Five patients have been reported: three with SHOC2 variants, one with a PTPN11 variant, and one with a KRAS variant. SHOC2 variant might represent a relatively common predisposing factor for SLE among the RASopathy genes. Read More

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http://dx.doi.org/10.1002/ajmg.a.38834DOI Listing
July 2018
8 Reads

Loose Anagen Hair Syndrome.

J Pediatr 2018 08 25;199:282-282.e1. Epub 2018 Apr 25.

Henry Ford Hospital Department of Dermatology Detroit, Michigan.

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http://dx.doi.org/10.1016/j.jpeds.2018.03.005DOI Listing
August 2018
2 Reads

Short anagen syndrome: Case series and literature review.

Pediatr Dermatol 2018 May 26;35(3):388-391. Epub 2018 Mar 26.

Department of Dermatology and Cutaneous Surgery, Jackson Health System/Miller School of Medicine, University of Miami, Miami, FL, USA.

Background/objectives: Short anagen syndrome is a hair cycle disorder usually diagnosed in early childhood and characterized by short hair length due to short duration of the anagen phase. The objective was to review the presentation and demographic characteristics of short anagen syndrome and compare them with the most common differential diagnosis, loose anagen syndrome.

Methods: A retrospective review of eight children with short anagen syndrome was performed at the University of Miami Outpatient Dermatology Clinic. Read More

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http://dx.doi.org/10.1111/pde.13478DOI Listing
May 2018
17 Reads

Loose anagen hair syndrome: Treatment with systemic minoxidil characterised by marked hair colour change.

Australas J Dermatol 2018 Nov 22;59(4):e286-e287. Epub 2018 Mar 22.

Sinclair Dermatology, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/ajd.12812DOI Listing
November 2018
23 Reads

Noonan syndrome with loose anagen hair associated with trichorrhexis nodosa and trichoptilosis.

Clin Case Rep 2017 07 1;5(7):1152-1154. Epub 2017 Jun 1.

Department of Dermatology University of Massachusetts Medical School 281 Lincoln Street Worcester 01605 Massachusetts.

We report a case of Noonan syndrome with loose anagen hair (NS/LAH), a rare variant of Noonan syndrome, with associated trichorrhexis nodosa and trichoptilosis. The mutation may be responsible for these additional hair shaft defects, revealing the importance of microscopic examination of hairs in these patients. Read More

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http://dx.doi.org/10.1002/ccr3.1011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494382PMC
July 2017
27 Reads

Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp.

Am J Med Genet A 2017 May 3;173(5):1309-1318. Epub 2017 Apr 3.

Center for Applied Clinical Genomics, A. I. duPont Hospital for Children/Nemours, Wilmington, Delaware.

Costello syndrome is part of the RASopathies, a group of neurocardiofaciocutaneous syndromes caused by deregulation of the RAS mitogen-activated protein kinase pathway. Heterozygous mutations in HRAS are responsible for Costello syndrome, with more than 80% of the patients harboring the specific p.Gly12Ser variant. Read More

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http://dx.doi.org/10.1002/ajmg.a.38178DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5397353PMC
May 2017
11 Reads

The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.

Am J Med Genet A 2017 Mar;173(3):824-828

Unidade de Genética Clínica, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.

We report on a 12-year-old Brazilian boy with the p.Pro49Arg mutation in PPP1CB, a novel gene associated with RASopathies. This is the fifth individual described, and the fourth presenting the same variant, suggesting a mutational hotspot. Read More

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http://dx.doi.org/10.1002/ajmg.a.38070DOI Listing
March 2017
23 Reads

Noonan syndrome - a new survey.

Arch Med Sci 2017 Feb 19;13(1):215-222. Epub 2016 Dec 19.

Division of Human Genetics, Immunology Research Center, Avicenna Research Institute, Mashhad University of Medical Sciences, Mashhad, Iran.

Noonan syndrome (NS) is an autosomal dominant disorder with vast heterogeneity in clinical and genetic features. Various symptoms have been reported for this abnormality such as short stature, unusual facial characteristics, congenital heart abnormalities, developmental complications, and an elevated tumor incidence rate. Noonan syndrome shares clinical features with other rare conditions, including LEOPARD syndrome, cardio-facio-cutaneous syndrome, Noonan-like syndrome with loose anagen hair, and Costello syndrome. Read More

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http://dx.doi.org/10.5114/aoms.2017.64720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5206377PMC
February 2017
32 Reads

Hair pull test: Evidence-based update and revision of guidelines.

J Am Acad Dermatol 2017 Mar 20;76(3):472-477. Epub 2016 Dec 20.

Division of Dermatology, Ottawa Hospital, Ottawa, Ontario, Canada. Electronic address:

Background: The hair pull test lacks validation and has unclear pretest guidelines.

Objective: We sought to quantify normal hair pull test values and elucidate the effect of pretest hair washing and brushing. The impact of hair texture and lifestyle was also examined. Read More

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http://dx.doi.org/10.1016/j.jaad.2016.10.002DOI Listing
March 2017
19 Reads

Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair.

Am J Med Genet A 2017 02 21;173(2):565-567. Epub 2016 Nov 21.

Division of Genetics, Department of Pediatrics, Louisiana State University Health Sciences Center School of Medicine, and Children's Hospital, New Orleans, Louisiana.

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http://dx.doi.org/10.1002/ajmg.a.38056DOI Listing
February 2017
12 Reads

Trichotillomania: Bizzare Patern of Hair Loss at 11-Year-old Girl.

Acta Dermatovenerol Croat 2016 Jun;24(2):150-3

Jana Zímová, MD. Department of Dermatology. University Hospital Ostrava. 17. listopadu 1790. 708 52 Ostrava - Poruba. Czech Republic;

Trichotillomania (TTM) is defined by the Diagnostics and Statistic Manual of Mental Disorders, 4th edition (DMS-IV) as hair loss from a patient`s repetitive self-pulling of hair. The disorder is included under anxiety disorders because it shares some obsessive-compulsive features. Patients have the tendency towards feelings of unattractiveness, body dissatisfaction, and low self-esteem (1,2). Read More

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June 2016
51 Reads

SHOC2 subcellular shuttling requires the KEKE motif-rich region and N-terminal leucine-rich repeat domain and impacts on ERK signalling.

Hum Mol Genet 2016 09 27;25(17):3824-3835. Epub 2016 Jul 27.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy

SHOC2 is a scaffold protein composed almost entirely by leucine-rich repeats (LRRs) and having an N-terminal region enriched in alternating lysine and glutamate/aspartate residues (KEKE motifs). SHOC2 acts as a positive modulator of the RAS-RAF-MEK-ERK signalling cascade by favouring stable RAF1 interaction with RAS. We previously reported that the p. Read More

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http://dx.doi.org/10.1093/hmg/ddw229DOI Listing
September 2016
28 Reads

Loose Anagen Syndrome: A Retrospective Chart Review of 37 Cases.

Pediatr Dermatol 2016 Sep 19;33(5):507-10. Epub 2016 Jul 19.

Division of Pediatrics, Section of Dermatology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

Background/objectives: Loose anagen syndrome (LAS) is a disorder of abnormal anchorage of the hair to the scalp. Its symptoms include an inability to grow hair long and hair that is easily pulled out.

Methods: We conducted a retrospective chart review of patients with LAS over the last 10 years at the Children's Hospital of Philadelphia and found 37 cases. Read More

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http://dx.doi.org/10.1111/pde.12912DOI Listing
September 2016
7 Reads

A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.

Am J Med Genet A 2016 09 5;170(9):2237-47. Epub 2016 Jun 5.

Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.

Noonan syndrome is a rasopathy caused by mutations in multiple genes encoding components of the RAS/MAPK pathway. Despite its variable phenotype, limited genotype-phenotype correlations exist. Noonan syndrome with loose anagen hair (NS-LAH) is characterized by its distinctive hair anomalies, developmental differences, and structural brain abnormalities and is caused by a single recurrent missense SHOC2 mutation. Read More

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http://dx.doi.org/10.1002/ajmg.a.37781DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5134331PMC
September 2016
87 Reads

Loose anagen hair syndrome: Is there any association with atopic dermatitis?

Indian Dermatol Online J 2016 Jan-Feb;7(1):56-7

Department of Dermatology, People's College of Medical Sciences and Research Centre, Bhopal, Madhya Pradesh, India.

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http://dx.doi.org/10.4103/2229-5178.174309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4763585PMC
March 2016
9 Reads

Loose Anagen Hair Syndrome.

Int J Trichology 2015 Jul-Sep;7(3):138-9

Department of Pediatric Dermatology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India.

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http://dx.doi.org/10.4103/0974-7753.167467DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4639962PMC
December 2015
6 Reads

Cardiomyopathies in Noonan syndrome and the other RASopathies.

Prog Pediatr Cardiol 2015 Jul;39(1):13-19

Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy.

Noonan syndrome and related disorders (Noonan syndrome with multiple lentigines, Costello syndrome, cardiofaciocutaneous syndrome, Noonan syndrome with loose anagen hair, and other related traits) are autosomal dominant traits. Mutations causing these disorders alter proteins relevant for signaling through RAS. Thus, these traits are now collectively called the RASopathies. Read More

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http://dx.doi.org/10.1016/j.ppedcard.2015.01.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4568836PMC
July 2015
17 Reads

Hair loss in children.

Curr Probl Dermatol 2015 20;47:55-66. Epub 2015 Feb 20.

Hair diseases represent frequent complaints in dermatology clinics, and they can be caused by a number of conditions reflected by specific diagnoses. Hair loss is not uncommon in the pediatric group, but its patterns in this group are different from those seen in adults. Additionally, in children, these disorders can have psychological effects that can interfere with growth and development. Read More

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http://dx.doi.org/10.1159/000369405DOI Listing
June 2016
22 Reads

N(1)-methylspermidine, a stable spermidine analog, prolongs anagen and regulates epithelial stem cell functions in human hair follicles.

Arch Dermatol Res 2015 Nov 28;307(9):841-7. Epub 2015 Jul 28.

Institute of Inflammation and Repair, University of Manchester, Manchester, UK.

Spermidine (Spd), the prototypic polyamine, has been shown to be essential for hair follicle (HF) growth. However, Spd can be readily converted into other polyamines, and is physiologically unstable. Therefore, to assess its individual functions on HFs, we used the metabolically stable Spd analog N(1)-methylspermidine (N(1)-MeSpd). Read More

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http://dx.doi.org/10.1007/s00403-015-1592-9DOI Listing
November 2015
39 Reads

Improved growth velocity of a patient with Noonan-like syndrome with loose anagen hair (NS/LAH) without growth hormone deficiency by low-dose growth hormone therapy.

Am J Med Genet A 2015 Oct 19;167A(10):2425-9. Epub 2015 Jun 19.

Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.

Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM 607721) is caused by a heterozygous c.4A>G mutation in SHOC2. Most cases exhibit both growth hormone deficiency (GHD) and growth hormone insensitivity (GHI) and thus require a high dose of growth hormone (GH) therapy (e. Read More

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http://dx.doi.org/10.1002/ajmg.a.37191DOI Listing
October 2015
39 Reads

Trichoscopy findings in loose anagen hair syndrome: rectangular granular structures and solitary yellow dots.

J Dermatol Case Rep 2015 Mar 31;9(1):1-5. Epub 2015 Mar 31.

Department of Dermatology, Medical University of Warsaw, Poland;

Background: Loose anagen hair syndrome (LAHS) is typically diagnosed in girls older than 2 years who present with hair that "will not grow". Hair microscopic examination shows absent inner and outer root sheaths, ruffling of the cuticle on the proximal hair shaft and deformed pigmented anagen bulbs.

Objective: The aim of the study was to assess whether there are characteristic trichoscopic features favoring the diagnosis of LAHS. Read More

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http://dx.doi.org/10.3315/jdcr.2015.1193DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4410883PMC
March 2015
25 Reads

PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain.

BMC Neurol 2015 Apr 16;15:55. Epub 2015 Apr 16.

Department of Clinical Neurosciences, Lausanne University Hospital (CHUV), Rue du Bugnon 21, 1011, Lausanne, Switzerland.

Background: LEOPARD syndrome (LS) belongs to the family of neuro-cardio-facio-cutaneous syndromes, which include Neurofibromatosis-1 (NF1), Noonan syndrome, Costello Syndrome, cardio-facio-cutaneous syndrome, Noonan-like syndrome with loose anagen hair and Legius syndrome. These conditions are caused by mutations in genes encoding proteins involved in the RAS-MAPK cellular pathway. Clinical heterogeneity and phenotype overlaps across those different syndromes is already recognized. Read More

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http://dx.doi.org/10.1186/s12883-015-0310-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4407356PMC
April 2015
35 Reads

Moyamoya disease in two patients with Noonan-like syndrome with loose anagen hair.

Am J Med Genet A 2015 Jun 9;167(6):1285-8. Epub 2015 Apr 9.

Department of Pediatrics and Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.

Moyamoya disease is a unique chronic cerebrovascular condition caused by progressive stenosis of the arteries around the circle of Willis with prominent arterial collateral circulation. Noonan-like syndrome with loose anagen hair (NSLH) is characterized by short stature, characteristic facial phenotype, darkly pigmented and hairless skin, mild psychomotor delay with attention deficit disorder, and easily pluckable, sparse, thin, slow growing hair. Mutations in SHOC2 have been reported to underlie NSLH. Read More

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http://dx.doi.org/10.1002/ajmg.a.37053DOI Listing
June 2015
16 Reads

Noonan syndrome-like disorder with loose anagen hair: a second case with neuroblastoma.

Am J Med Genet A 2015 Aug 5;167A(8):1902-7. Epub 2015 Apr 5.

Department of Hematology, Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.

Noonan-like syndrome with loose anagen hair (NSLH), also known as Mazzanti syndrome, is a RASopathy characterized by craniofacial features resembling Noonan syndrome, cardiac defects, cognitive deficits and behavioral issues, reduced growth generally associated with GH deficit, darkly pigmented skin, and an unique combination of ectodermal anomalies. Virtually all cases of NSLH are caused by an invariant and functionally unique mutation in SHOC2 (c.4A>G, p. Read More

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http://dx.doi.org/10.1002/ajmg.a.37082DOI Listing
August 2015
77 Reads

[Your patient complains about hair loss. Contribution of a skin biopsy in noncicatricial alopecias].

Rev Med Liege 2014 Dec;69(12):686-91

The diagnosis of most alopecia problems is based on the clinical history and a well conducted clinical examination. The additional contributions of dermoscopy, trichoscopy and trichogram are helpful. However, a scalp biopsy is occasionally necessary to establish the correct diagnosis. Read More

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December 2014
9 Reads

A case of loose anagen syndrome in an African American girl.

Pediatr Dermatol 2015 May-Jun;32(3):e128-9. Epub 2015 Mar 17.

Division of Pediatric Dermatology, Johns Hopkins Hospital, Baltimore, Maryland.

We present the case of 7-year-old African American girl with loose anagen syndrome. Although this is a common cause of hair loss in Caucasian children, and there have been reports of cases occurring in dark-skinned children of North African and Middle Eastern descent, to our knowledge there have been no cases reported in black children of sub-Saharan African ancestry. We present this case to broaden the differential diagnosis of hair loss in African Americans. Read More

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http://dx.doi.org/10.1111/pde.12554DOI Listing
April 2016
10 Reads

Moyamoya syndrome in a patient with Noonan-like syndrome with loose anagen hair.

Pediatr Neurol 2015 Mar 3;52(3):352-5. Epub 2014 Dec 3.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea; Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea. Electronic address:

Background: Noonan-like syndrome with loose anagen hair is one of the RASopathies characterized by Noonan syndrome-like features with unique ectodermal abnormalities. This syndrome is caused by mutations in the SHOC2 gene. We encountered a patient with moyamoya syndrome associated with Noonan-like syndrome with loose anagen hair presenting with transient ischemic attacks. Read More

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.11.017DOI Listing
March 2015
20 Reads

Loose anagen hair syndrome.

Indian Dermatol Online J 2014 Oct;5(4):548-9

Department of Dermatology, Lokmanya Tilak Municipal Medical College and General Hospital, Sion, Mumbai, Maharashtra, India.

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http://dx.doi.org/10.4103/2229-5178.142571DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228677PMC
October 2014
25 Reads

Phenotypic variability associated with the invariant SHOC2 c.4A>G (p.Ser2Gly) missense mutation.

Am J Med Genet A 2014 Dec 20;164A(12):3120-5. Epub 2014 Oct 20.

Department of Paediatrics, University of Torino, Torino, Italy.

Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM 607721) is a developmental disorder clinically related to Noonan syndrome (NS) and characterized by facial dysmorphisms, postnatal growth retardation, cardiac anomalies (in particular dysplasia of the mitral valve and septal defects), variable neurocognitive impairment, and florid ectodermal features. A distinctive trait of NS/LAH is its association with easily pluckable, slow growing, sparse, and thin hair. This rare condition is due to the invariant c. Read More

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http://dx.doi.org/10.1002/ajmg.a.36697DOI Listing
December 2014
25 Reads

A Novel SHOC2 Variant in Rasopathy.

Hum Mutat 2014 Nov 11;35(11):1290-4. Epub 2014 Sep 11.

Division of Medical Genetics and Genomic Medicine, Vanderbilt University, Nashville, Tennessee.

Rasopathies are a group of genetic disorders caused by germline mutations in multiple genes of the Extracellular signal-Regulated Kinases 1 and 2 (ERK1/2) pathway. The only previously identified missense mutation in SHOC2, a scaffold protein of the ERK1/2 pathway, led to Noonan-like syndrome with loose anagen hair. Here, we report a novel mutation in SHOC2(c. Read More

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http://dx.doi.org/10.1002/humu.22634DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4213265PMC
November 2014
15 Reads
4 Citations
5.144 Impact Factor

The perinatal presentation of cardiofaciocutaneous syndrome.

Am J Med Genet A 2014 Aug 9;164A(8):2036-42. Epub 2014 Apr 9.

Department of Pediatrics, University of Hawaii, Honolulu, Hawaii.

There is limited information available related to the perinatal course of cardiofaciocutaneous syndrome (CFC) compared to other syndromes within the Ras-MAP kinase pathway (rasopathies) such as Noonan and Costello syndrome. Retrospective chart review revealed four cases of CFC with molecular confirmation between 2005 and 2012 at Hawaii's largest obstetric and pediatric referral center. We report on details of the prenatal, neonatal, and infancy course and long-term follow-up beyond infancy in two patients. Read More

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http://dx.doi.org/10.1002/ajmg.a.36558DOI Listing
August 2014
24 Reads

Diagnosis and management of alopecia in children.

Pediatr Clin North Am 2014 Apr 21;61(2):427-42. Epub 2014 Jan 21.

Section of Dermatology, Department of Pediatrics, The Children's Hospital of Philadelphia, 3550 Market Street, 2nd Floor Dermatology, Philadelphia, PA 19104, USA. Electronic address:

Alopecia in childhood is a source of high concern, frustration, and anxiety. Delineating types of alopecia and those that are chronic or potentially related to underlying medical problems is important. There are 5 common types of hair loss in children: alopecia related to tinea capitis, alopecia areata spectrum/autoimmune alopecia, traction alopecia, telogen effluvium, and trichotillomania/trichotillosis. Read More

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http://dx.doi.org/10.1016/j.pcl.2013.12.002DOI Listing
April 2014
9 Reads