1/8. Cafe au lait has hue of its own.Segmental pigmentation disorder is a pigmentation disorder (hypo- or hyperpigmentation) first described some 20 years ago. It appears early in life, is segmental, and usually has a sharp border in the midline. It can be confused clinically and histologically with several pigmentary disorders, especially with giant or segmental cafe-au-lait macules. The purpose of this article is to promote, revive, and refresh this somewhat neglected entity, and to further subdivide it into two types: segmental pigmentation disorder simplex and segmental cafe-au-lait. We illustrate our contention with case reports.- - - - - - - - - - ranking = 1keywords = simplex (Clic here for more details about this article) |
2/8. epidermolysis bullosa simplex with mottled pigmentation: mutation analysis in the first reported Hispanic pedigree with the largest single generation of affected individuals to date.epidermolysis bullosa simplex with mottled pigmentation (EBS-MP), characterized by trauma-induced blisters, distinct pigmentary changes of the trunk and extremities, and acral hyperkeratotic papules, is almost exclusively caused by a common KRT5 missense mutation affecting the V1 region of keratin 5. We studied the first Hispanic family, the largest single generation of affected family members in which 5 out of 10 siblings inherited EBS-MP from their affected father, as well a second large pedigree, the first reported of Finnish ancestry. In both families, the heterozygous transition mutation 74C-->T of the keratin 5 gene, which results in amino acid substitution P25L, completely co-segregated with the EBS-MP phenotype.- - - - - - - - - - ranking = 5896.9449726391keywords = bullosa simplex, bullosa, simplex (Clic here for more details about this article) |
3/8. epidermolysis bullosa simplex with mottled pigmentation.A patient with epidermolysis bullosa simplex with mottled pigmentation is described. Clinical features include blistering of the skin, especially of the extremities; healing without scars; slight atrophy of the skin; and striking mottled pigmentation of the trunk. Histologic examination of a biopsy specimen from freshly frictioned, clinically uninvolved skin indicated a split inside the basal keratinocytes, focal hyperpigmentation of the basal cells, and pigment incontinence without an inflammatory infiltrate. Indirect immunofluorescence demonstrated focal discontinuity of the basement membrane zone. Electron microscopic examination revealed basal keratinocytes with few intact intracellular organelles, aggregated tonofilaments, and subnuclear splitting with the basal parts of the cells adhering to the basement membrane. Both normal basement membrane and zones of irregular and interrupted structures were seen. hemidesmosomes and anchoring fibrils appeared to be normal.- - - - - - - - - - ranking = 51753.11752654keywords = epidermolysis bullosa simplex, bullosa simplex, epidermolysis bullosa, epidermolysis, bullosa, simplex (Clic here for more details about this article) |
4/8. Epidermolysis bullosa herpetiformis with mottled pigmentation and an unusual punctate keratoderma.We report the clinical and pathological features of an epidermolytic form of epidermolysis bullosa (EB) present in a family with six affected members that was transmitted in an autosomal dominant manner in four generations. The essential clinical features included generalized herpetiform blistering of the skin, mottled pigmentation and palmo-plantar hyperkeratosis, both punctate and diffuse. biopsy material obtained from fresh blisters, clinically intact preblistering skin, hyperkeratotic areas, and skin with mottled pigmentation was examined by light and/or electron microscopy. In addition to reporting a heretofore undescribed association of EB herpetiformis with mottled pigmentation and punctate keratoderma, we report previously undescribed histologic changes in the areas of punctate hyperkeratosis. Specifically, the unique histologic findings consisted of the presence of dyskeratotic cells with clear cytoplasm at the cellular periphery, parakeratosis, and involvement of the intradermal portion of the sweat duct. The possibility that these findings represent a new type of epidermolytic EB, rather than a variant of other types of epidermolytic EB, particularly EB herpetiformis or EB with mottled pigmentation, is discussed.- - - - - - - - - - ranking = 386.23609184919keywords = epidermolysis bullosa, epidermolysis, bullosa (Clic here for more details about this article) |
5/8. Coxsackievirus B2 infection in a neonate with incontinentia pigmenti.Because of the concern for herpes simplex virus infection in the neonate, the presence of neonatal vesiculobullous lesions is a critical finding. However, there are other etiologies for these lesions. A case of a neonate with a vesicular rash and meningoencephalitis which was initially thought due to herpes is presented. The infant was ultimately determined to have incontinentia pigmenti and a concomitant coxsackievirus B2 infection.- - - - - - - - - - ranking = 1keywords = simplex (Clic here for more details about this article) |
6/8. epidermolysis bullosa simplex and mottled pigmentation: a new dominant syndrome. I. Clinical and histological features.A family is reported in which 11 members presented epidermolysis bullosa simplex with some unusual features, and 10 of whom had congenital mottled hyper- and hypopigmentation of the skin. Both anomalies are inherited together in an autosomal dominant fashion, although dominant X-linkage cannot be excluded. The epidermolysis without dyspigmentation in the 11th individual suggests that the syndrome in the other 10 members is due to genetic linkage of two independent genes and not to pleiotropism of a single mutant gene. The mottled pigmentation seems distinct from previously known dyspigmentations and is also suggestive of autosomal inactivation in man. (See addendum).- - - - - - - - - - ranking = 51836.701621445keywords = epidermolysis bullosa simplex, bullosa simplex, epidermolysis bullosa, epidermolysis, bullosa, simplex (Clic here for more details about this article) |
7/8. epidermolysis bullosa simplex with mottled pigmentation. Case report and review of the literature.epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a rare genodermatosis of which only 4 pedigrees have so far been reported. We present herein a new family with EBS-MP comprising a peculiar punctate digital keratoderma. The propositus was an 18-year-old patient who had suffered since birth from posttraumatic bullae, followed by mottled pigmentation, plantar keratosis, nail dystrophy and peculiar punctate keratoses of the fingers. histology, immunofluorescence and electron microscopy of a bullous lesion showed an intraepidermal cleavage and an increased number of melanosomes within basal keratinocytes, dermal macrophages and schwann cells. The precise genetic defect responsible for EBS-MP is not known but could be due to two distinct, closely linked mutations. The nosologic relationship between EBS-MP and other forms of EBS as well as cases of hereditary bullous poikilodermic acrokeratosis is discussed.- - - - - - - - - - ranking = 29484.724863196keywords = bullosa simplex, bullosa, simplex (Clic here for more details about this article) |
8/8. epidermolysis bullosa simplex with mottled pigmentation.A family in which epidermolysis bullosa simplex and mottled pigmentation are inherited as an autosomal dominant disorder is described. Clinical features include: non-scarring blistering, mainly affecting the limbs, mottled pigmentation, predominantly affecting the trunk and neck, warty hyperkeratotic papules of the palms and soles, small red scaly plaques, and skin atrophy. histology showed an atrophic epidermis, basal cell lysis and significant colloid body formation in an infant from the family.- - - - - - - - - - ranking = 51753.11752654keywords = epidermolysis bullosa simplex, bullosa simplex, epidermolysis bullosa, epidermolysis, bullosa, simplex (Clic here for more details about this article) |