Dermatopathia pigmentosa reticularis

Dermatopathia pigmentosa reticularis
Dermatopathia pigmentosa reticularis
Classification and external resources
OMIM 125595

Dermatopathia pigmentosa reticularis (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

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.[4]

Dermatopathia pigmentosa reticularis has an autosomal dominant pattern of inheritance.

See also

External links

References

  1. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0071380760.
  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 0721629210.
  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. http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)63083-3. 



Wikimedia Foundation. 2010.

Игры ⚽ Нужен реферат?

Look at other dictionaries:

  • dermatopathia pigmentosa reticularis — a rare autosomal dominant skin disorder caused by mutations in the KRT14 gene (locus: 17q12 q21), which encodes keratin 14, a protein expressed in the basal layer of squamous strafied epithelium. It is characterized by generalized reticular… …   Medical dictionary

  • dermatopathia — SYN: dermatopathy. d. pigmentosa reticularis SYN: livedo reticularis. * * * der·ma·to·path·ia path ē ə n DERMOPATHY der·ma·to·path·ic path ik adj * * * der·ma·to·path·ia (dur″mə to pathґe ə) …   Medical dictionary

  • Urticaria pigmentosa — Classification and external resources The back of a child with uriticaria pigmentosa ICD 10 Q …   Wikipedia

  • дерматопатия пигментная ретикулярная — (dermatopathia pigmentosa reticularis; дермато + греч. pathos страдание, болезнь; син. Оберста Лена Хаусса пигментная дерматопатия) форма дисхромии кожи, характеризующаяся сетчатой гиперпигментацией кожи за счет неравномерного отложения меланина… …   Большой медицинский словарь

  • Дерматопати́я пигме́нтная ретикуля́рная — (dermatopathia pigmentosa reticularis; дермато (Дерм ) + греч. pathos страдание, болезнь; син. Оберста Лена Хаусса пигментная дерматопатия) форма дисхромии кожи, характеризующаяся сетчатой гиперпигментацией кожи за счет неравномерного отложения… …   Медицинская энциклопедия

  • List of cutaneous conditions — This is an incomplete list, which may never be able to satisfy particular standards for completeness. You can help by expanding it with reliably sourced entries. See also: Cutaneous conditions, Category:Cutaneous conditions, and ICD 10… …   Wikipedia

  • Naegeli–Franceschetti–Jadassohn syndrome — Classification and external resources OMIM 161000 DiseasesDB 29767 eMedicine …   Wikipedia

  • Keratin 14 — Identifiers Symbols KRT14; CK14; EBS3; EBS4; K14; NFJ External IDs OMIM …   Wikipedia

  • Naegeli syndrome — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 29767 ICD10 = ICD9 = ICDO = OMIM = 161000 MedlinePlus = eMedicineSubj = derm eMedicineTopic = 736 MeshID = Naegeli syndrome (or Naegeli Franceschetti Jadassohn syndrome) [OMIM|161000] is a… …   Wikipedia

  • Ectodermal dysplasia — Classification and external resources ICD 10 Q82.4 ICD 9 757.31 …   Wikipedia

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”