Dermatopathia pigmentosa reticularis

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Dermatopathia pigmentosa reticularis
Classification and external resources
ICD-10 Q82.4
OMIM 125595

Dermatopathia pigmentosa reticularis (DPR), also known as dermatopathia pigmentosa reticularis hyperkeratotica et mutilans, dermatopathia pigmentosa reticularis hypohidotica et atrophica and dermatopathic pigmentosa reticularis,[1]:511 is a rare, autosomal dominant[2] 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.[3]:856

Presentation[edit]

Symptoms include lack of sweat glands, thin hair, brittle nails, mottled skin, and lack of fingerprints.

Cause[edit]

DPR is comparable to Naegeli syndrome, both of which are caused by a specific defect in the keratin 14 protein.[4]

Dermatopathia pigmentosa reticularis has an autosomal dominant pattern of inheritance.

See also[edit]

References[edit]

  1. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
  2. ^ Heimer WL II, Brauner G, James WD (1992). "Dermatopathia pigmentosa reticularis: a report of a family demonstrating autosomal dominant inheritance". J Am Acad Dermatol. 6 (2 pt. 2): 298–301. doi:10.1016/0190-9622(92)70039-I. PMID 1303619. 
  3. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  4. ^ Lugassy J, Itin P, Ishida-Yamamoto A, et al. (October 2006). "Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14". Am. J. Hum. Genet. 79 (4): 724–30. doi:10.1086/507792. PMC 1592572. PMID 16960809. 

External links[edit]