X-linked reticulate pigmentary disorder with systemic manifestations: Report of a third family and literature review

Pediatric Dermatology

Volumn 22, Issue 2, 2005, Pages 122-126

  Anderson, Robert C ^a   Zinn, Andrew R ^a   Kim, June ^a   Carder, K Robin ^a  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID;

ANHIDROSIS; CASE REPORT; CHILD; CHILDHOOD DISEASE; CHRONIC LUNG DISEASE; CLINICAL FEATURE; CORNEA DYSTROPHY; FAILURE TO THRIVE; FAMILIAL DISEASE; FEMALE; GENE IDENTIFICATION; HAIR; HUMAN; HYPERPIGMENTATION; KERATINOCYTE; MALE; PHOTOPHOBIA; PIGMENT DISORDER; PRIORITY JOURNAL; PUNCH BIOPSY; RARE DISEASE; RETINA MACULA LUTEA; REVIEW; SYSTEMIC DISEASE; TISSUE DISTRIBUTION; X CHROMOSOME LINKED DISORDER; X LINKED RETICULATE PIGMENTARY DISORDER;

CHILD; CHILD, PRESCHOOL; CORNEAL DYSTROPHIES, HEREDITARY; FAILURE TO THRIVE; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; MALE; PHOTOPHOBIA; PIGMENTATION DISORDERS; SKIN;

EID: 16344394789     PISSN: 07368046     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1525-1470.2005.22206.x     Document Type: Review

References (9)

1. Partington MW, Marriott PJ, Prentice RS, et al. Familial cutaneous amyloidosis with systemic manifestations in males. Am J Med Genet 1981;10:65-75.
2. Adés LC, Rogers M, Sillenco DO. An X-linked reticulate pigmentary disorder with systemic manifestations: report of a second family. Pediatr Dermatol 1993;10:344-351.
3. Gedeon AK, Mulley JC, Kozman H, et al. Localization of the gene for X-linked reticulate pigmentary disorder with systemic manifestations (RPD), previously known as X-linked cutaneous amyloidosis. Am J Med Genet 1994;52:75-78.
4. Berlin AL, Paller AS, Chan LS. Incontinentia pigmenti. a review and update on the molecular basis of pathophysiology. J Am Acad Dermatol 2002;47:169-187.
5. Partington MW, Prentice RS. X-linked cutaneous amyloidosis: further clinical and pathological observations. Am J Med Genet 1989;32:115-119.
6. Itin PH, Lautenschlager S, Meyer R, et al. Natural history of the Naegeli-Franceschetti-Jadassohn syndrome and further delineation of its clinical manifestations. J Am Acad Dermatol 1993;28:942-950.
7. Hovnanian A, Blanchet-Bardon C, de Prost Y. Poikiloderma of Theresa Kindler: report of a case with ultrastructural study and review of the literature. Pediatr Dermatol 1989;6:82-90.
8. Osaki M. Familial lichen amyloidosis. Int J Dermatol 1984;23:190-193.
9. Alfadley A, Al Ajlan A, Hainau B, et al. Reticulate acropigmentation of Dohi: a case report of autosomal recessive inheritance. J Am Acad Dermatol 2000;43:113-117.