Uncombable Hair Syndrome and Beyond

January 2022 in “ Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.) ”

Manahel Mahmood Alsabbagh

Uncombable hair syndrome UHS PADI3 TGM3 TCHH hair follicle hair texture hair color hair density hair growth skin pathologies nail pathologies teeth pathologies molecular genetic analysis genotype-phenotype correlations

Studysummary This article presents an overview of uncombable hair syndrome, emphasizing its clinical and molecular characteristics and noting systemic manifestations such as neuropsychiatric, ophthalmic, and cardiopulmonary issues.

Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer

Uncombable hair syndrome (UHS) is a condition that presents with frizzy hair in early childhood and can involve the nervous system, eyes, and ears. The syndrome is linked to mutations in three genes: PADI3, TGM3, and TCHH, which are crucial for hair follicle formation and strength. A review of 127 cases showed that hair defects were reported in two-thirds of cases, with changes in hair texture (83%), color (52%), density (15%), and growth (11%). UHS may co-occur with other hair conditions and can also present with skin, nail, and teeth pathologies in 63%, 28%, and 25% of cases, respectively. Systemic abnormalities, including dysmorphic features, neuropsychiatric/developmental issues, ophthalmic and otic manifestations, and cardiopulmonary issues, were also reported. Molecular genetic analysis is recommended for all patients to identify genotype-phenotype correlations.

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research Transglutaminase 3: The Involvement in Epithelial Differentiation and Cancer

22 citations , August 2020 in “Cells”

This review discusses the role of TGM3 in skin and hair follicle biology, human tumor pathology, and genetic abnormalities, and reports no novel results; the authors highlight its potential as a cancer diagnostic biomarker.

research A Girl With Loose Anagen Hair Syndrome And Concurrent Uncombable Hair Syndrome

3 citations , January 2020 in “JAAD Case Reports”

This report describes a patient with symptoms suggestive of both loose anagen hair syndrome and uncombable hair syndrome, adding to previous instances of overlapping features between these conditions.

research Deimination and Peptidylarginine Deiminases in Skin Physiology and Diseases

57 citations , January 2020 in “International Journal of Molecular Sciences”

This review discusses the role of peptidylarginine deiminases in skin homeostasis and diseases, particularly in keratinocyte differentiation and hair disorders, but presents no new experimental findings.

research Hair That Is Difficult to Manage in a Hispanic Girl

1 citations , July 2017 in “Skin appendage disorders”

A 9-year-old Hispanic girl has Uncombable Hair Syndrome, which may improve with age and biotin treatment.

research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome

119 citations , November 2016 in “American journal of human genetics”

This study reports the discovery of mutations in the PADI3, TGM3, and TCHH genes as molecular genetic causes of uncombable hair syndrome in children, indicating an autosomal-recessive inheritance pattern.

research Marie Unna Hereditary Hypotrichosis: A Turkish Family with Loss of Eyebrows and a U2HR Mutation

11 citations , September 2010 in “American Journal of Medical Genetics - Part A”

This study reports a mutation in the U2HR gene causing Marie Unna hereditary hypotrichosis in a Turkish family and notes eyebrow loss as a diagnostic clue.

research Familial Uncombable Hair Syndrome: Ultrastructural Hair Study and Response to Biotin

49 citations , April 2007 in “Pediatric Dermatology”

This study describes a family with uncombable hair syndrome, suggesting autosomal dominant inheritance, and reports that oral biotin improved hair appearance in two young patients.

research Pili Trianguli Et Canaliculi Is a Defect of Inner Root Sheath Keratinization

8 citations , May 2005 in “The American journal of dermatopathology/American journal of dermatopathology”

This study observed unique ultrastructural changes in a 4-year-old girl with pili trianguli et canaliculi that may affect hair shaft surface characteristics due to inner root sheath alterations.

research Crystalline Cataract and Uncombable Hair Syndrome in a 7-Year-Old Girl

26 citations , September 1990 in “Ophthalmology”

This case study found that a 7-year-old girl's crystalline cataract had sulfur-containing amino acids likely cystine, and was associated with abnormal hair conditions.

research Loose Anagen Hair of Childhood: The Phenomenon of Easily Pluckable Hair

85 citations , February 1989 in “Journal of The American Academy of Dermatology”

This case report describes a newly identified condition called loose anagen hair of childhood, characterized by easily pluckable hair in two young boys, with variable duration and no scalp inflammation or scarring.

research Uncombable-Hair Syndrome

12 citations , November 1987 in “Pediatric dermatology”

This report identified longitudinal grooves in the hair shafts of four children, diagnosing them with uncombable-hair syndrome.

research Uncombable Hair Syndrome: Observations on Response to Biotin and Occurrence in Siblings with Ectodermal Dysplasia

101 citations , July 1985 in “Journal of the American Academy of Dermatology”

In this study, oral biotin improved hair growth, strength, and combability in a child with uncombable hair syndrome, while hair in two others slowly improved without biotin.