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Watson syndrome: is it a subtype of type 1 neurofibromatosis?

Over 20 years ago, Watson described three families with a condition characterised by pulmonary valvular stenosis, café au lait patches, and dull intelligence. Short stature is an additional feature of this autosomal dominant condition. A fourth family with Watson syndrome has since been reported. We have had the opportunity to review members of three of these four families. The clinical phenotype of Watson syndrome has been expanded to include relative macrocephaly and Lisch nodules in the majority of affected subjects, and neurofibromas in one-third of family members. Because the additional clinical findings enhance the similarity between Watson syndrome and neurofibromatosis 1, molecular linkage studies have been performed using probes flanking the NF1 gene on chromosome 17. Probe HHH202 showed the tightest linkage to Watson syndrome with a maximum lod score of 3.59 at phi = 0.0 (95% confidence limits of phi = 0.0-0.15). This suggests either that Watson syndrome and neurofibromatosis 1 are allelic, or that there is a series of contiguous genes for pulmonary stenosis, neurocutaneous anomalies, short stature, and mental retardation on 17q.

Chromosomes, Human, Pair 17↗

[Depigmentation for cosmetic purposes: prevalence and side-effects in a female population in Senegal].

BACKGROUND: Use of depigmenting agents by black women for cosmetic purposes is a long-standing practice. Most depigmenting agents contain topical steroids and hydroquinone. The purpose of this study was to clarify prevalence data on use of depigmenting agents in a female population in Senegal and to report the incidence and main features of adverse skin reactions in addition to possible associations with diabetes, hypertension and renal insufficiency. PATIENTS AND METHODS: A cross-sectional study was made in a representative sample of 147 hospitalized women aged from 15 to 60 years. The incidence of adverse skin reactions, diabetes, hypertension and serum creatinine in 41 women admitting use of depigmenting agents was compared to those found in 85 women who maintained they had never used depigmenting agents. Two patients who refused to participate in the study and 19 others who did use depigmenting products and had stopped their use for at least 3 months were excluded from the analysis. RESULTS: The prevalence of use of depigmenting agents was 27.9% (47/147). Adverse skin reactions were significantly more frequent among these patients. Effects observed were similar to those reported for prolonged use of topical steroids but also included periorbitary dyschromia, exogenous ochronosis, infectious dermatosis, and, in particular, extended dermatophytosis and necrotizing cellulitis, contact eczema, and certain hyperpigmentation when depigmenting agents were discontinued. Presence of relative hyperpigmentation of the dorsal phalanges identified use of depigmenting agents with a 100% specificity. Prevalence of diabetes and hypertension was significantly higher among the group of women using depigmenting agents (46.3% and 8.2%, versus 34.1% and 8.2% respectively). There was no difference for renal insufficiency. The risk increased independently of age depending on whether duration of use was less than 10 years or not with a relative risk that rose from 3.63 (1.2-10.47) to 6.47 (3.41-12.32) for diabetes and from 1.34 (0.45-3.96) to 2.65 (1.27-5.51) for hypertension, clearly suggesting a possible dose effect. DISCUSSION: The prevalence of use of depigmenting agents in this first published hospital series confirms the widespread nature of this phenomenon in Senegal. While certain patent skin signs are similar to those described in the literature, and excluding specific features related to the hospital setting, this is the first report of a dose-effect between use of depigmentation agents and diabetes and hypertension, probably via the effect of topical steroids.

Administration, Topical↗

[Sneddon syndrome as a clinical manifestation of the antiphospholipid antibody syndrome].

A 39 year old female patient has had reticular skin lesions showing the clinical picture of livedo racemosa for 7 years. Her medical history revealed cerebrovascular disease. In the background of livedo racemosa no systemic disorder could be detected, so the authors considered their case to be Sneddon's syndrome. In the serum of the patient antiphospholipoid antibodies (high anticardiolipin antibody titer, factor lupus anticoagulant) could be detected so the diagnosis mentioned in the title seemed to be correct.

Adult↗