Dowling-Degos Disease 3

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

KRT5, POFUT1, POGLUT1, PSENEN, ADAM10, CFH, IL1B, TYRP1, ACAN, CFHR5, TNF, TRP-AGG2-6, RANBP2, DCT, TBPL1, TRPV1, SHBG, LZTR1, TRPC6, SIRT1, TRPC3, TRP-TGG3-1, SMC1A, SYNGAP1, TGFBR2, TGFB1, TAC1, SPTBN2, FTO, OPA1, SET, EGF, ANG, SERPINA6, COL9A2, COL9A3, COMT, CSF1, CCN2, CTNNB1, DDT, EGR3, PTH1R, HNRNPA1, IGF1, IL4, IL5, IL6, CXCL8, LEP, LTA, NFKB1, DDTL

Drugs

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For a general phenotypic description and a discussion of genetic heterogeneity of Dowling-Degos disease, see DDD1 (179850).

Clinical Features

Li et al. (2006) described a 4-generation Chinese family in which at least 21 individuals exhibited spotted and reticulate pigmentation of the flexures. Three patients had dotted hyperpigmented brownish-black macules on the dorsa of their hands and feet that were reminiscent of reticulate acropigmentation of Kitamura (RAK; 615537), but they did not show the characteristic palmar pits of that disorder.

Inheritance

Li et al. (2006) studied a 4-generation Chinese family with Dowling-Degos disease in which the mode of inheritance was autosomal dominant with complete penetrance.

Mapping

In a 4-generation Chinese family with Dowling-Degos disease, Li et al. (2006) performed a genomewide scan and found linkage to marker D17S831 (Zmax = 3.61 at theta = 0). Fine mapping with additional markers yielded a lod score of 3.61 for D17S1529 (Zmax = 3.01 at theta = 0). No significant linkage with markers on other chromosomal regions was found. Recombination events narrowed the critical interval to a 6.8-cM region distal to D17S1978 on chromosome 17p13.3.