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Acta Dermatovenerol Alp Pannonica Adriat 2022 Jun;31(2):49-64

Department of Molecular Medicine, Princess Al-Jawhara Center for Molecular Medicine and Inherited Disorders, Arabian Gulf University, Manama, Kingdom of Bahrain.

Uncombable hair syndrome presents with frizzy hair in early childhood. Isolated hair manifestations are usually observed; however, systemic involvement of the nervous system, eyes, and ears have also been reported. The syndrome has been classified into three subtypes, correlating with the three mutated genes: peptidyl arginine deiminase, type III; transglutaminase 3; and trichohyalin. Read More

Br J Dermatol 2022 May 25. Epub 2022 May 25.

Department of Dermatology and Reference Center for Rare Diseases and Vascular Malformations (MAGEC), University Hospital Center of Tours, Tours, France.

JAAD Case Rep 2022 Jun 26;24:52-55. Epub 2022 Apr 26.

Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, South Carolina.

Eur J Pediatr 2022 May 16. Epub 2022 May 16.

Pediatric Genetics Unit, Department of Public Health and Pediatric Sciences, Università Degli Studi Di Torino, Turin, Italy.

Noonan syndrome (NS) and related disorders encompass a phenotypically heterogeneous group of conditions due to mutations in the Ras/Mitogen-activated protein kinase pathway. The main objective of this study was to assess the presence and characteristics of epilepsy in children and adolescents affected by NS and related disorders. The study included all the patients aged 5-21 years who had been diagnosed with NS or of one of three Noonan-like syndromes (i. Read More

Pediatr Dermatol 2022 Apr 16. Epub 2022 Apr 16.

Dr. Phillip Frost Department of Dermatology & Cutaneous Surgery, University of Miami Miller School of Medicine, Miami, Florida, USA.

Loose anagen syndrome (LAS) and short anagen syndrome (SAS) are congenital hair disorders presenting with reduced hair length with or without hair thinning. We conducted a non-validated online questionnaire of self-identified familial participants in a Facebook support group to assess psychologic symptoms, including anxiety, depression, low self-esteem, sadness, insecurity, worry, frustration, and body dysmorphia, in patients and their caregivers. Of 163 total respondents, negative psychologic symptoms were reported in 44. Read More

Am J Med Genet A 2022 Jul 25;188(7):2246-2250. Epub 2022 Mar 25.

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.

Noonan syndrome-like disorder with loose anagen hair (NSLH) is a rare disease characterized by typical features of Noonan syndrome with additional findings of relative or absolute macrocephaly, loose anagen hair, and a higher incidence of intellectual disability. NSLH1 is caused by a heterozygous mutation in the SHOC2 gene on chromosome 10q25, and NLSH2 is caused by a heterozygous mutation in the Protein phosphatase one catalytic subunit beta (PPP1CB) gene on chromosome 2p23. Protein phosphatase1 (PP1), encoded by PPP1CB, forms a complex with SHOC2 and dephosphorylates RAFs, which results in activation of the signaling cascade and contribution to Noonan syndrome pathogenesis. Read More

Indian J Dermatol Venereol Leprol 2021 Dec 27:1-12. Epub 2021 Dec 27.

Department of Dermatology, Venereology and Leprosy, Shri B. M. Patil Medical College, Hospital and Research Center, BLDE University, Vijayapur, Karnataka, India.

Ras/mitogen-activated protein kinase pathway dysregulation results in a group of disorders, collectively termed as RASopathies. Neurofibromatosis type 1, Noonan syndrome, Noonan syndrome with multiple lentigines, Noonan syndrome/loose anagen hair, Legius syndrome, Costello syndrome, cardio-facio-cutaneous syndrome and capillary malformation-arteriovenous malformation are the well-recognized RASopathies. These are characterized by multi-organ tumours and hamartomas. Read More

Adv Cancer Res 2022 7;153:305-341. Epub 2021 Aug 7.

Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, SC, United States. Electronic address:

The RASopathies are a group of genetic diseases in which the Ras/MAPK signaling pathway is inappropriately activated as a result of mutations in genes encoding proteins within this pathway. As their causative mutations have been identified, this group of diseases has expanded to include neurofibromatosis type 1 (NF1), Legius syndrome, Noonan syndrome, CBL syndrome, Noonan syndrome-like disorder with loose anagen hair, Noonan syndrome with multiple lentigines, Costello syndrome, cardiofaciocutaneous syndrome, gingival fibromatosis and capillary malformation-arteriovenous malformation syndrome. Many of these genetic disorders share clinical features in common such as abnormal facies, short stature, varying degrees of cognitive impairment, cardiovascular abnormalities, skeletal abnormalities and a predisposition to develop benign and malignant neoplasms. Read More

Dermatol Pract Concept 2021 Oct 1;11(4):e2021071. Epub 2021 Oct 1.

College of Medicine, King Faisal University, AlAhsa, Saudi Arabia.

J Cell Sci 2021 11 5;134(21). Epub 2021 Nov 5.

Department of Molecular and Cellular Biochemistry, University of Kentucky, Lexington, KY 40536, USA.

The ERK1/2 (also known as MAPK3 and MAPK1, respectively) signaling pathway is critical in organismal development and tissue morphogenesis. Deregulation of this pathway leads to congenital abnormalities with severe developmental dysmorphisms. The core ERK1/2 cascade relies on scaffold proteins, such as Shoc2 to guide and fine-tune its signals. Read More

Pediatr Dermatol 2021 Sep 18;38(5):1157-1161. Epub 2021 Aug 18.

Dermatology -IRCCS Policlinico di Sant'Orsola - Department of Experimental, Diagnostic and Specialty Medicine (DIMES) Alma Mater Studiorum University of Bologna, Bologna, Italy.

Background: The short anagen syndrome (SAS) is a rare idiopathic pediatric disorder characterized by the short duration of the anagen phase. SAS mainly affects Caucasian children. Parents complain of their child's inability to grow long hair. Read More

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