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A peculiar subphenotype in the fra(X) syndrome: extreme obesity-short stature-stubby hands and feet-diffuse hyperpigmentation. Further evidence of disturbed hypothalamic function in the fra(X) syndrome?

In this report we describe two fra(X) adults and two prepubertal fra(X) brothers with a combination of distinct phenotypic findings: extreme obesity, short stature, stubby hands and feet and diffuse hyper-pigmentation. These clinical abnormalities may be an additional indication of a specific hypothalamic disturbance in the fra(X) syndrome.

Adult↗

Postsclerotherapy hyperpigmentations: a one-year follow-up.

In a prospective study of 100 sequential varicose patients treated with sclerotherapy, 15 had some light brown pigmentations at the end of the treatment. One year later, 1 patient still had some linear pigmentations, while 4 other patients had a single, macular, barely visible pigmentation of no cosmetic significance.

Adult↗

Postsclerotherapy hyperpigmentation. The role of serum ferritin levels and the effectiveness of treatment with the copper vapor laser.

Cutaneous pigmentation is a common complication of sclerotherapy of dilated lower limb veins. Histologic examination has shown that the pigment is due to hemosiderin deposition predominantly in the superficial dermis. Optimal technique will reduce the incidence of pigmentation but it is likely that patient factors such as total body iron storage may explain why some patients are more prone to develop pigmentation. Traditional exfoliation therapies have not given reliable reproducible results and there is need to develop an effective treatment without adverse sequelae. In this study 16 patients with refractory postsclerotherapy pigmentation were treated with the copper vapor laser. Within 3 months of treatment 11 (69%) had significant clearing of the pigmentation. Four (25%) had slight improvement and one patient had no discernible improvement. No adverse sequelae were reported or observed. The treated patients and 16 matched control patients who had not developed pigmentation were investigated with serum iron, ferritin and transferrin levels. There was a trend towards higher serum iron and ferritin levels and lower transferrin levels in the patients who developed pigmentation compared with those who did not develop this sequela. This trend was statistically significant for ferritin levels in patients 50 years of age and younger. The results indicate that serum ferritin may be a good indicator of susceptibility to postsclerotherapy pigmentation.

Adult↗

Minocycline hyperpigmentation: model for in situ phagocytic activity of factor XIIIa positive dermal dendrocytes.

Pigmentary disorders resulting from the prolonged use of the semisynthetic tetracycline derivative antibiotic, minocycline, are rare but well recognized sequelae of ingestion of this drug. We present two cases of women with bullous pemphigoid who developed blue-black pigmentation in areas of scarring on the legs after oral minocycline therapy. On histologic examination, the deposited pigment was localized within dendritic cells limited to the upper dermis. Immunohistochemical analysis revealed these cells to be factor XIIIa positive dermal dendrocytes which was confirmed by transmission electron microscopy. We believe these cases demonstrate, in-situ, the phagocytic capabilities of this recently described cell population.

Aged↗

Hyperpigmentation of chinchilla stria vascularis following acoustic trauma.

This report describes morphological alterations of the chinchilla stria vascularis seen 30 days after exposure to impulse noise. The observed changes included a dramatic increase in strial melanin content which occurred in 7 of 36 animals exposed to electronically synthesized impluses presented in various temporal patterns at either 135 or 150 dB peak SPL. In these animals, densely pigmented areas of stria 1.5 to 3 mm in length were found in the basal cochlear turn. Light and electron microscopic study revealed that these areas contained large numbers of melanin granules situated primarily in pale-staining cells of the middle layer of the stria. Unlike the pigment granules present in normal chinchilla stria, the melanosomes found in the noise-exposed material clearly showed ultrastructural features characteristic of eumelanin. Melanin granules were also observed in marginal and basal cells of the noise-exposed stria. In some cases, pigment granules which had apparently been expelled from the marginal cells were present in the endolymphatic space beneath Reissner's membrane and on the strial surface. These findings support the view that the melanin-bearing cells of the inner ear are capable of markedly increased activity in response to stressful conditions.

Animals↗

Familial spinocerebellar ataxia with skin hyperpigmentation.

Previous reports have shown the association between familial spastic paraplegia and hypopigmentation of the skin. A family is reported in which three siblings presented with progressive spastic paraparesis and cerebellar ataxia. All the siblings had large hyperpigmented naevi of the lower extremities while none of the unaffected members had a skin lesion. A definite association appears to exist between heredo-familial ataxias and disordered skin pigmentation, but the exact mechanism remains unclear.

Adult↗