Dermatopathia pigmentosa reticularis

Dermatopathia pigmentosa reticularis
Dermatopathia pigmentosa reticularis has an autosomal dominant pattern of inheritance
Classification and external resources
Specialty medical genetics
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

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.[4]

See also

References

  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. 26 (2 pt. 2): 298–301. PMID 1303619. doi:10.1016/0190-9622(92)70039-I.
  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. PMC 1592572 Freely accessible. PMID 16960809. doi:10.1086/507792.


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