Dermatopathia pigmentosa reticularis

Dermatopathia pigmentosa reticularis 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

Dermatopathia pigmentosa reticularis
Other namesDermatopathic pigmentosa reticularis[1]:511
Dermatopathia pigmentosa reticularis has an autosomal dominant pattern of inheritance
SpecialtyMedical genetics 

Presentation

Symptoms include lack of sweat glands, thin hair, brittle nails, mottled skin, and lack of fingerprints.[4]

DPR is very similar to the related Naegeli-Franceschetti-Jadassohn syndrome. Both cause an affected person to lack fingerprints, have a lace-like pattern of hyperpigmentation and hyperkeratosis of the palms of the hands and soles of the feet. DPR is distinguished from NFJS by the duration of hyperpigmentation and lack of dental abnormalities.[5]

Cause

DPR is caused by a mutation in the keratin 14 gene.[6]

Treatment

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. 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. "OMIM Clinical Synopsis - #125595 - DERMATOPATHIA PIGMENTOSA RETICULARIS; DPR". www.omim.org. Retrieved 13 October 2018.
  5. "OMIM Entry - # 125595 - DERMATOPATHIA PIGMENTOSA RETICULARIS; DPR". www.omim.org. Retrieved 13 October 2018.
  6. 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.
Classification


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