Hereditary congenital hypopigmented and hyperpigmented macules

Abstract

Congenital hypomelanotic and hypermelanotic macules traced in three generations of a family suggested autosomal dominant inheritance. Some affected membbers also showed retarded growth and mental deficiency. Light microscopic findings of "splitdopa" preparations of lesional and normal skin were comparable, except that background staining of keratinocytes in dark macules was higher than in control skin. In light macules it was lower. Ultrastructurally, hypomelanotic skin showed small melanosomes (0.3 mu) that occurred in keratinocytes in melanosome complexes. Hypermelanotic skin revealed large melanosomes (0.6 mu) that were singly distributed in keratinocytes. Melanosome size in normal skin averaged 0.4 mu; distribution pattern was mixed. Melanin granules inside keratinocytes were fully melanized. Hyperpigmented, normal and hypopigmented skin of one person had histological features of black oriental and white skin. This clinical picture could well represent a new neurocutaneous syndrome different from tuberous sclerosis.

Cutis tricolor parvimaculata: A Distinct Neurocutaneous Syndrome?

“…In this malignant brain tumor, loss of genetic material frequently involves chromosomes 1p and 19q, as likewise documented in the present case [11, 12]. Remarkably, in the family described by Westerhof et al [10], some patients showed mental deficiency or pyramidal tract disease.…”

“…The skin lesions of this patient were reminiscent of a pigmentation disorder reported by Westerhof et al [10]under the title ‘hereditary congenital hypopigmented and hyperpigmented macules’. This trait was documented in many members of a three-generation family, suggesting autosomal dominant transmission.…”

Cutis Tricolor Parvimaculata: A Distinct Neurocutaneous Syndrome with Brain Involvement: Case Report

“…But there are only two reports of cutis tricolor in two different families suggesting the autosomal dominant and paradominant inheritance. 1,4 The unknown underlying gene locus may represent a hot spot for postzygotic recombinations, giving rise to multiple twin spots. 5 Recently; ZFHX1B mutations have been detected and also a 19qter deletion was showed in a patient.…”

“…The characteristic lesions are hypo-and hyperpigmented macules, most likely representing twin spotting, located on normal skin. 1,2 The location and size of the macules are extremely variable. 3,4 Thus, it is clear that cutis tricolor is not one distinct clinical entity, it should rather be taken as a cutaneous sign of several different types of mosaicism.…”

“…2,3 There are only two reports of cutis tricolor in two different families that suggest autosomal dominant inheritance. 1,4 Here, we presented a 3-year-old girl diagnosed with cutis tricolor parvimaculata with unknown subcortical and periventricular lesions that revealed the brain involvement.…”