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Dermatol Online J 2021 Feb 15;27(2). Epub 2021 Feb 15.

Department of Dermatology, Medical College of Georgia, Augusta University Medical Center, Augusta, GA.

Loose anagen syndrome (LAS) is a hair disorder involving insufficient anchoring of the hair follicle to the scalp owing to an autosomal dominant or sporadic mutation in the gene encoding keratin 6. There are three phenotypes of LAS, including type B, which presents in young, light-haired girls as unruly, uncombable hair with diminished growth. We present a 2-year-old girl with LAS type B whose identical twin sister was unaffected. Read More

J Eur Acad Dermatol Venereol 2021 Jul 23;35(7):1485-1492. Epub 2021 Mar 23.

Dermatology Unit, Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Italy.

Topical minoxidil has been used for many years as treatment for different hair disorders. Even though it is an effective therapy, many patients show poor compliance due to the cosmesis, cost and side-effects. During the last few years, low-dose oral minoxidil has proven to be an alternative for patients with alopecia. Read More

Am J Med Genet A 2021 04 25;185(4):1256-1260. Epub 2021 Jan 25.

Laboratorio de Biología Molecular, Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.

Rasopathies are a group of phenotypically overlapping conditions that include Noonan, Noonan with multiple lentigines, Noonan with loose anagen hair, Costello, Cardio-facio-cutaneous, and Neurofibromatosis-Noonan syndromes. Noonan syndrome with loose anagen hair (NS-LAH) is clinically characterized by prominent forehead, macrocephaly, growth hormone deficiency, sparse, loose and slow-growing anagen hair, hyperpigmented skin with eczema or ichthyosis, mild psychomotor delays, hypernasal voices, and attention deficit hyperactivity disorder. Variants in SHOC2 are responsible for the majority of the cases. Read More

Indian Pediatr 2021 01;58(1):30-33

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India. Correspondence to: Dr Ratna Dua Puri, Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.

Objective: To examine the common and specific clinical features, mutation spectrum and genotype-phenotype correlation in Noonan syndrome and related RASopathies.

Participants: Records of 30 patients with clinical diagnosis of Noonan syndrome and related RASopathies presenting over a six-year period at a tertiary care medical genetics centre were reviewed. Detailed clinical phenotype evaluation and genetic testing (PTPN11 sequencing or next generation sequencing) was done. Read More

Br J Dermatol 2021 05 18;184(5):977-978. Epub 2021 Feb 18.

Sinclair Dermatology, East Melbourne, VIC, Australia.

Indian Pediatr 2020 Aug 6. Epub 2020 Aug 6.

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India. Correspondence to: Dr Ratna Dua Puri, Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.

Objective: To examine the common and specific clinical features, mutation spectrum and genotype-phenotype correlation in Noonan syndrome and related RASopathies.

Participants: Records of 30 patients with clinical diagnosis of Noonan syndrome and related RASopathies presenting over a six-year period at a Tertiary care Medical Genetics centre were reviewed. Detailed clinical phenotype evaluation and genetic testing (PTPN11 sequencing or next generation sequencing) was done. Read More

Skin Appendage Disord 2020 Jun 13;6(3):162-167. Epub 2020 Mar 13.

Dermatology Department, Hospital Universitario "Dr. José Eleuterio González," Universidad Autónoma de Nuevo León, Monterrey, Mexico.

Trichorhinophalangeal syndrome (TRPS) is an autosomal dominant disease characterized by trichologic, craniofacial, and musculoskeletal abnormalities. Predominant clinical features include a pear-shaped nose with bulbous tip, long philtrum, protruding ears, and sparse hair on both the scalp and the lateral third of the eyebrows. Cone-shaped epiphyses are a common radiographic finding. Read More

J Am Acad Dermatol 2021 Mar 2;84(3):737-746. Epub 2020 Jul 2.

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

Background: Although topical minoxidil is an effective treatment option for hair loss, many patients are poorly compliant because of 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 used to treat hair loss to determine its efficacy and safety as an alternative to topical minoxidil. Read More

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.

Am J Med Genet A 2020 08 1;182(8):1967-1971. 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

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

Henry Ford Department of Dermatology, Detroit, Michigan.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Henry Ford Hospital Department of Dermatology Detroit, Michigan.

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

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

Sinclair Dermatology, Melbourne, Victoria, Australia.

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