Specialty medical genetics OMIM 125595 | ICD-10 Q82.4 | |
 | ||
Dermatopathia pigmentosa reticularis (DPR), also known as dermatopathia pigmentosa reticularis hyperkeratotica et mutilans, dermatopathia pigmentosa reticularis hypohidotica et atrophica and dermatopathic pigmentosa reticularis, is a rare, autosomal dominant congenital disorder that is a form of ectodermal dysplasia. Dermatopathia pigmentosa reticularis is composed of the triad of generalized reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy.
Contents
Presentation
Symptoms include lack of sweat glands, thin hair, brittle nails, mottled skin, and lack of fingerprints.
Cause
DPR is comparable to Naegeli syndrome, both of which are caused by a specific defect in the keratin 14 protein.
References
Dermatopathia pigmentosa reticularis Wikipedia(Text) CC BY-SA