We describe three generations of a family expressing progressive mottled hypopigmentation and hyperpigmentation on the non-exposed parts of the body from childhood to adult life. At birth, they all had epidermal blistering of the distal extremities. Although the palmoplantar warty keratoses could be related to the bulla formation, the pigmentary changes could not. Otherwise, there were no systemic disorders. Genetic diseases with spotty epidermal hypopigmentation and hyperpigmentation form a long list and the diagnosis is not always easy. Although different diagnostically, the condition resembled an entity described by Siemens in 1922 and epidermolysis bullosa with mottled pigmentation. Molecular biological investigation would be required to characterize the phenotype of this entity, which apparently was a mutation occurring in one family for three generations.

译文

:我们描述了一个家庭的三代人,从童年到成年,他们在身体的未暴露部位表现出斑驳的色素沉着和色素沉着过度。出生时,他们都患有远端肢体的表皮水泡。尽管掌plant疣状角化病可能与大疱的形成有关,但色素变化却无关。否则,没有全身性疾病。伴有表皮色素沉着过多和色素沉着过多的遗传性疾病的名单很长,诊断并不总是那么容易。尽管在诊断上有所不同,但该病状类似于西门子在1922年所描述的病状和表皮松解性大疱,并带有斑驳的色素沉着。需要进行分子生物学研究来表征该实体的表型,这显然是一个家族中发生了三代的突变。

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