Overlap of Reticulate Acropigmentation of Kitamura, Acropigmentation of Dohi and Dowling-Degos Disease in Four Generations

Abstract

A large kindred is being reported in which reticulate acropigmentation of Kitamura (RAPK) and acropigmentation of Dohi (APD) were associated with features of Dowling-Degos disease (DDD). The pedigree was traced through four generations and 50% of the members were found to be affected. RAPK, APD and DDD are inherited as an autosomal dominant trait with variable penetrance. The differentiation and overlap/association of RAPK, APD and DDD is discussed.

Generalized Dowling-Degos disease

“…These lesions may or may not be observed in patients with DDD. [4][5][6][7]9,12 They were not present in our patients, and the hypopigmented lesions we did observe are not a feature of RAPK. Rather, diffuse symmetrically distributed hypopigmented macules or papules mixed with hyperpigmentation are characteristic findings in DUH (a generalized disorder) and DSH (a localized disorder).…”

Acromelanosis Albo-Punctata: A Distinct Inherited Dermatosis with Acral Spotty Dyspigmentation without Systemic Involvement

“…Palmar pits may be accompanied. It usually starts after puberty [41]. Dowling-Degos disease, first described by Dowling and Freudenthal in 1938 [42] and termed ‘dermatose réticulée des plis’ (reticulate dermatosis of flexures) by Degos and Ossipowski in 1954 [43], is an autosomal dominant form of reticulate hyperpigmentation with a late onset which mainly affects the flexures and great skin folds (fig.…”

“…5) [44]. It does not come along with atrophy and palmar pits are absent [41]. Nevertheless, since histology is comparable in both diseases and there are several reports about an overlap of reticulate acropigmentation of Kitamura and Dowling-Degos disease, both entities are thought to be within a spectrum of the same disease [41,45,46,47].…”

Generalized mottled pigmentation with postnatal skin blistering in three generations

“…The different diagnostic features of the latter are listed in Table I. The disorder described by us has to be differentiated from some other genetic diseases with spotty pigmentation of the skin. Acropigmentation of Dohi, 3,5-10 reticulate acropigmentation of Kitamura,4,[11][12][13][14][15][16][17] Dowling-Degos disease, 18-20 mixed forms of the foregoing disease entities, [21][22][23][24] Naegeli-Franceschetti-Jadassohn syndrome, 25 dermatopathia pigmentosa reticularis, 26 and dyskeratosis congenita 27 can be ruled out because in these diseases there is no episode of epidermal blistering. Mendes da Costa syndrome 28 and incontinentia pigmenti 29,30 are associated with central nervous system defects and have a different mode of inheritance as well as different patterns of pigmentation.…”