Synonym(s)
HYMD; Hypotrichosis with juvenile macular dystrophy
HistoryThis section has been translated automatically.
Wagner, 1935
DefinitionThis section has been translated automatically.
Rare disease characterized by hypotrichosis with growth inhibition of the main hair (note: patients never have to go to the hairdresser) and progressive macular degeneration until complete blindness.
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EtiopathogenesisThis section has been translated automatically.
Autosomal recessive syndrome with missen mutations in the cadherin 3 gene (CDH3 gene), which codes for the P-cadherin protein (see cadherins below).
ManifestationThis section has been translated automatically.
Clinically noticeable already in early infancy.
Clinical featuresThis section has been translated automatically.
Hypotrichosis with smooth or curly, short, often blonde (disturbance of pigmentation?) hair and lentiginosis centrofacialis (occurs frequently). Due to the lack of hair growth, a visit to the hairdresser is not necessary. Occurrence of hair abnormalities ( Pili torti, Pseudomonilethrix, longitudinal cracks).
HistologyThis section has been translated automatically.
Irregular epithelium of the hair root sheath with apoptotic cells in the outer layer, thickened cuticle and fibrosing strands of the dermis. Increased ratio of vellus/terminal hairs possible.
DiagnosisThis section has been translated automatically.
The clinical picture in the described constellation of symptoms is diagnostically conclusive.
Complication(s)This section has been translated automatically.
Increasing loss of visual acuity up to blindness.
Note(s)This section has been translated automatically.
The mechanism of the disease is still unclear: P-cadherin is expressed simultaneously with E-cadherin in the retina and in skin and follicular epithelia. E-cadherin is able to compensate a lack of P-cadherin during keratinocyte differentiation in vivo, a resulting lack of E-cadherin in the major part of the hair matrix might possibly explain the limitation of the changes to the hair follicle. P-cadherin appears to interact with many other cytoplasmic proteins and to play an important role during hair morphogenesis.
LiteratureThis section has been translated automatically.
- Bergman R et al (2004) Histopathology of hypotrichosis with juvenile macular dystrophy. At J Dermatopathol 26: 205-209
- Indelman M et al (2003) Phenotypic diversity and mutation spectrum in hypotrichosis with juvenile macular dystrophy. J Invest Dermatol 121: 1217-1220
- Indelman M et al (2002) A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophy. J Invest Dermatol 119: 1210-1213
- Speaker E et al (2001) Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin. Nat Genet 29: 134-136
- Wagner H (1935) Macular infection associated with hair abnormality of lanugo type, both possibly congenital in two siblings. Graefes Arch Klin Exp Opthalmol 134: 71
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Disclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
Prof. Dr. med. Peter Altmeyer