Multinucleate cell angiohistiocytoma (MCAH) was first described by Smith and Wilson-Jones in 1985. It is an uncommon entity but probably underdiagnosed because of lack of recognition by clinicians and pathologists. We report a 47-year-old man with asymptomatic grouped violaceous papules on the dorsum of the hands for 3 years. The histopathological and immunopathological features of our case revealed characteristics of MCAH similar to the initial description of Smith and Wilson-Jones and other reports.

Two adult siblings with an alpha-N-acetylgalactosaminidase deficiency are described. The patients' major features are massive lymphoedema and angiokeratoma corporis diffusum. Neurological evaluation performed in one of the patients was considered within normal limits. Blood type is A positive in each case. Ultrastructural examination of skin revealed numerous vacuoles in endothelial cells and pericytes. Fibroblast activity of alpha-N-acetylgalactosaminidase was decreased to 0.6-2% of mean normal value. Chromatography of urinary oligosaccharides showed abnormal bands identical to those excreted by two infantile patients with Schindler disease. The bands were identified as sialyloligosaccharides, and gas chromatography revealed the presence of N-acetylgalactosamine-rich compounds accounting for 30% of the total monosaccharide content of the oligosaccharide fraction. These findings confirm the heterogeneity of alpha-N-acetylgalactosaminidase deficiency and emphasize the need to consider this lysosomal storage disease in the differential diagnosis of patients with angiokeratoma.

No abstract

We report on a female aged 13 years, whose scalp hair began to disappear at the age of 9 years, leaving only sparse wispy hairs in the parietal-occipital region. Eyelashes, eyebrows and body hair were unaffected. There were no signs of ectodermal dysplasia on the skin, nails, teeth and eyes nor other congenital abnormalities. The family pedigree showed 15 relatives similarly affected according to an autosomal dominant mode of transmission. Clinical, genetic, histological and ultrastructural aspects led to a diagnosis of hereditary hypotrichosis simplex of the scalp (Toribio-Quiñones type).

The typical rash of Still disease is an asymptomatic, salmon‐coloured, macular, or maculopapular eruption that appears along with the fever spikes and fades when the body temperature drops. Although not included in the diagnostic criteria, there are other frequent, persistent, pruritic and polymorphic skin manifestations of Still disease that have distinctive clinical features and specific histological findings. Among these atypical persistent pruritic eruptions (PPEs), periorbital erythema and linear flagellate papules and plaques can resemble the cutaneous manifestations of dermatomyositis (DM). The presence of these lesions in adult‐onset Still disease has been associated with worse prognosis and higher mortality rates, perhaps due to the development of a secondary macrophage activation syndrome (MAS). We report two cases of Still disease with persistent atypical DM‐like eruption, one in a paediatric patient (a very underreported finding) and the other in an adult. Both cases developed a secondary MAS.