KEGG   DISEASE: Trichomegaly
Entry
H01905                      Disease                                
Name
Trichomegaly
Description
Eyelash trichomegaly is defined as eyelashes which are found to be of increased length, thickness, and pigmentation. It can be present at birth as part of variety congenital syndromes or as a benign familial trait. Congenital syndromes that include eyelash trichomegaly as a defining diagnostic feature, are Oliver-McFarlane syndrome [DS:H01898] and Cornelia de Lange syndrome [DS:H00631]. It has been identified that mutations in FGF5 underlie the trichomegaly. There are also acquired conditions and drugs that are known to cause eyelash trichomegaly. For example, acquired conditions, such as allergic rhinitis, atopic dermatitis, HIV infection, and certain eye diseases, have commonly been reported to be associated with increased length of the eyelashes.
Category
Skin disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H01905  Trichomegaly
Pathway
hsa04020  Calcium signaling pathway
hsa04010  MAPK signaling pathway
Gene
FGF5 [HSA:2250] [KO:K04358]
Comment
See also H01898 PNPLA6-related disorders and H00631 Cornelia de Lange syndrome.
Other DBs
ICD-11: LD27.0Y
ICD-10: H02.7
OMIM: 190330
Reference
  Authors
Paul LJ, Cohen PR, Kurzrock R
  Title
Eyelash trichomegaly: review of congenital, acquired, and drug-associated etiologies for elongation of the eyelashes.
  Journal
Int J Dermatol 51:631-46; quiz 643-4, 646 (2012)
DOI:10.1111/j.1365-4632.2011.05315.x
Reference
  Authors
Higgins CA, Petukhova L, Harel S, Ho YY, Drill E, Shapiro L, Wajid M, Christiano AM
  Title
FGF5 is a crucial regulator of hair length in humans.
  Journal
Proc Natl Acad Sci U S A 111:10648-53 (2014)
DOI:10.1073/pnas.1402862111
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