Source:http://linkedlifedata.com/resource/pubmed/id/15040480
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1
|
| pubmed:dateCreated |
2004-3-25
|
| pubmed:abstractText |
Familial progressive hyperpigmentation is rarely described in the literature. We report on five patients from three different families presenting with a peculiar progressive pigmentary disorder. The patients show a progressive diffuse, partly blotchy, hyperpigmentation, intermixed with scattered small hypopigmented macules, a few large hypopigmented areas, occasional café-au-lait spots and, most remarkably, a generalized lentiginosis. Histology revealed different degrees of basal layer hyperpigmentation and pigment incontinence, also in the spots appearing hypopigmented. Ultrastructural analysis showed a normal mode of Caucasian-like melanogenesis with varying content of regular melanosome complexes within the keratinocytes. All families are clustered in a small area around the town of Teublitz in south-east Germany with about 20,000 inhabitants, suggesting a genetic founder effect. Pedigree analysis is compatible with an autosomal dominant mode of inheritance with variable penetrance. Only a few similar, but not identical, cases have been reported in the past. This cluster of cases may therefore represent a rare and perhaps novel variant of a familial progressive disorder of hyperpigmentation.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:issn |
0001-5555
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
84
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
57-60
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| pubmed:dateRevised |
2004-11-17
|
| pubmed:meshHeading |
pubmed-meshheading:15040480-Adolescent,
pubmed-meshheading:15040480-Adult,
pubmed-meshheading:15040480-Child,
pubmed-meshheading:15040480-Cluster Analysis,
pubmed-meshheading:15040480-Disease Progression,
pubmed-meshheading:15040480-Female,
pubmed-meshheading:15040480-Founder Effect,
pubmed-meshheading:15040480-Germany,
pubmed-meshheading:15040480-Humans,
pubmed-meshheading:15040480-Hyperpigmentation,
pubmed-meshheading:15040480-Infant,
pubmed-meshheading:15040480-Lentigo,
pubmed-meshheading:15040480-Male,
pubmed-meshheading:15040480-Middle Aged,
pubmed-meshheading:15040480-Pedigree,
pubmed-meshheading:15040480-Pigmentation Disorders,
pubmed-meshheading:15040480-Rare Diseases,
pubmed-meshheading:15040480-Skin
|
| pubmed:year |
2004
|
| pubmed:articleTitle |
Progressive hyperpigmentation and generalized lentiginosis without associated systemic symptoms: a rare hereditary pigmentation disorder in south-east Germany.
|
| pubmed:affiliation |
Department of Dermatology, University of Regensburg, Germany.
|
| pubmed:publicationType |
Journal Article,
Case Reports
|