Generalized mottled pigmentation with postnatal skin blistering in three generations

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

“…Additionally, we excluded mutations in the disease-causing gene ADAR [19,20,21,22,23,24,25,26,27,28], which makes the diagnosis of dyschromatosis hereditaria rather unlikely. The list of differential diagnoses of spotty epidermal hyper- or hypopigmentation is long [3,11]. Besides acromelanosis albo-punctata no other entity clinically fits to our case, nor could a mutation in one of the known genes confirm any other diagnosis.…”

“…A family described in 2004 [11], suffering over three generations of progressive mottled hypopigmentation, might rather be assigned as EBS with mottled pigmentation. The patients described in both reports had blisters in their early childhood, which is a typical feature of EBS but seems not to be a feature of acromelanosis albo-punctata.…”

Epidermolysis Bullosa Simplex with Mottled Pigmentation: A Family Report and Review

“…Clinical manifestations of EBS‐MP vary according to patient age, and there is phenotype heterogeneity between members of the same affected family and of different families. Since the first family reported (1), only 15 families and eight sporadic cases of EBS‐MP have been described (1–22), including the two Spanish families described in the present report (4), (Table 1). In all reported cases for which history is available, the blisters appeared at birth or during infancy and tended to disappear in adulthood, although in some cases they reappeared periodically (1,6).…”

“…In all reported cases for which history is available, the blisters appeared at birth or during infancy and tended to disappear in adulthood, although in some cases they reappeared periodically (1,6). The blisters are usually localized, affecting mainly the distal extremities or acral areas, although generalized blistering has been reported in two families (1,7) and in one sporadic case (3). Blisters heal without scarring, but in the first reported family and in one spontaneous case, physical examination revealed milia (1,8), and in this latter case and in two other reported cases, cutaneous atrophy was also found (9).…”

“…Abnormal skin pigmentation appears later in life and is not preceded by blisters. In all reported cases, it is described as hyperpigmented and confluent macules forming a reticular pattern that in some cases may be accompanied by hypopigmented macules (3,7,12). According to previous reports, the most commonly involved areas are the trunk (3,5,6,9,11–15) and the extremities (1,5,6,10–12,14–17), followed by the abdomen (8,18) and the armpits and groin (2,19).…”