Familial Woolly Hair Syndrome

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Disease Ontology 12 DOID:0111572 KEGG 36 H00667 SNOMED-CT 67 52564001 MESH via Orphanet 44 C536745 ICD10 via Orphanet 33 Q84.1

UMLS via Orphanet 72 C0343073 C0345427 Orphanet 58 ORPHA170 ORPHA434809 SNOMED-CT via HPO 68 128306009 128602000 193570009 22066006 247053007 247546006 25159003 274093008 29555009 more UMLS 71 C0343073

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 170 Definition A rare congenital skin disease defined as an abnormality of the structure of the scalp hair and characterized by extreme kinkiness of the hair. Epidemiology Prevalence of woolly hair is unknown. Clinical description Woolly hair can either be present at birth or appear in the first months of life. The curls, with an average diameter of 0.5 cm, lie closely together and usually make the hair difficult to comb; in addition, the hair may be more fragile than usual. The hair growth rate is usually normal but the anagen phase may be truncated, with the result that the hair does not grow to be long. Woolly hair either shows a generalized distribution affecting the entire scalp or a localized circumscribed distribution in the form of a woolly hair nevus. A diffuse partial form, manifesting during adolescence and adulthood, have also been described. In many cases, woolly hair is associated with hypotrichosis. Whilst wooly hair may occur as an isolated finding, it is important to exclude manifestations that occur in syndromic forms such as dilated cardiomyopathy and palmoplantar keratoderma (Carvajal syndrome ), arrhythmogenic right ventricular cardiomyopathy and palmoplantar keratoderma (Naxos disease), or with growth failure and neurological symptoms (Menkes disease). Etiology Isolated forms are mostly due to homozygous or sometimes compound heterozygous mutations in the genes lipase H (LIPH , 3q27.2) and lysophosphatidic acid receptor 6 (LPAR6 , 13q14.2), that act along a common pathway which plays an important role in the control of hair growth as well as hair texture. In only very few patients, heterozygous mutations have been reported in two keratin genes, namely KRT74 (12q13.13) and KRT71 (12q13.13). Mutations have also been reported in KRT25 (17q21.2 ). Recently, a new gene locus was reported for woolly hair on chromosome 4q35.1-q35.2 with a potential disease gene with one affected family only. The etiology of diffuse partial woolly hair and of sporadically occurring woolly hair nevi is unknown. Diagnostic methods A thorough dermatological examination with an evaluation of the entire integument should be performed and may also identify any associated manifestations. The examination of the hair shafts by light and electron microscopy reveals an elliptical cross section, variations in caliber, axis rotation and kinked formation, as well as non-homogeneous keratinization. In some cases trichorrexis nodosa is evident. If necessary, the anagen/catagen ratio can be determined using a trichogram. In cases of diffuse partial woolly hair, an increase in intermediate follicles can be detected histopathologically. Differential diagnosis Differential diagnosis includes acquired progressive curling of the hair, allotrichia circumscripta symmetrica, acquired partial kinky hair and drug-induced kinky hair. Syndromes with woolly hair should also be excluded, such as Naxos disease, Carvajal syndrome, Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome, woolly-hair-palmoplantar keratoderma syndrome, and skin fragility-woolly hair-palmoplantar keratoderma syndrome. Genetic counseling Generalized forms due to KRT74 and KRT71 mutations are autosomal dominant , and forms due to LIPH and LPAR6 mutations are autosomal recessive . Sporadic forms may also occur. Follicular mosaicism is likely, while an autosomal dominant transmission has also been discussed for diffuse partial woolly hair. Management and treatment No treatment is currently available. Depending on their size and location, woolly hair nevi can be excised. Harsh physical and chemical cosmetic treatments should be avoided. If the presence of a syndrome is suspected, an extensive internal investigation, with a detailed cardiological diagnostic examination, is necessary. Prognosis Woolly hair is most pronounced during childhood; the manifestations often become less severe in adulthood. Visit the Orphanet disease page for more resources.

MalaCards based summary : Familial Woolly Hair Syndrome, also known as woolly hair, is related to palmoplantar keratoderma and woolly hair and hypotrichosis 8. An important gene associated with Familial Woolly Hair Syndrome is LIPH (Lipase H), and among its related pathways/superpathways are Neuroactive ligand-receptor interaction and Developmental Biology. Affiliated tissues include skin, heart and brain, and related phenotypes are fine hair and woolly hair

Disease Ontology : ¹² A hair disease characterized by fine and tightly curled hair that grows slowly and stops growing after a few inches with hair shafts that display trichorrhexis nodosa and tapered ends.

KEGG : ³⁶ Woolly hair (WH) is a group of hair shaft dystrophies characterized by fine and tightly curled hair. WH is inherited in either autosomal dominant and autosomal recessive manner. Autosomal recessive woolly hair can also show varying degrees of sparse hair or hypotrichosis (HYPT).

Wikipedia : ⁷⁴ Afro-textured hair, or kinky hair is the natural hair texture of certain populations in Africa, mainly... more...

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00249-S	9.36	DSC3 PKP1
2	Decreased viability	GR00381-A-1	9.36	KRT71 PKP3 TMEM43
3	Decreased viability	GR00386-A-1	9.36	DSC3 SKIV2L
4	Decreased viability	GR00402-S-2	9.36	DSG4 DSP LIPH PKP1

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Search GEO for disease gene expression data for Familial Woolly Hair Syndrome.