Extended clinical features associated with novel Glis3 mutation: a case report.

BACKGROUND: Mutations in the GLI-similar 3 (GLIS3) gene encoding the transcription factor GLIS3 are a rare cause of neonatal diabetes and congenital hypothyroidism with 12 reported patients to date. Additional features, previously described, include congenital glaucoma, hepatic fibrosis, polycystic kidneys, developmental delay, facial dysmorphism, osteopenia, sensorineural deafness, choanal atresia, craniosynostosis and pancreatic exocrine insufficiency. CASE PRESENTATION: We report a new case for consanguineous parents with homozygous novel mutation in GLIS3 gene who presented with neonatal diabetes mellitus, severe resistant congenital hypothyroidism, cholestatic liver disease, bilateral congenital glaucoma and facial dysmorphism. There were associated abnormalities in the external genitalia in form of bifid scrotum, bilateral undescended testicles, microphallus and scrotal hypospadias which might be a coincidental finding. CONCLUSIONS: We suggest that infants with neonatal diabetes associated with dysmorphism should be screened for GLIS3 gene mutations.

DELAYED DIAGNOSIS OF A HYPER FUNCTIONING PARATHYROID CYST. A CASE REPORT AND GENETIC ANALYSIS.

OBJECTIVE: Parathyroid cyst is a rare disorder of the parathyroid, with a clinical presentation ranging from a nonsymptomatic mass to severe acute parathyroid crisis. We present here a case of a 73-year-old man who had a neck mass for 5 months before presenting to the emergency room with symptoms of severe hypercalcemia. The investigations during his admission led to the suspicion of a hyperfunctioning parathyroid cyst causing the hyperparathyroidism. Total parathyroidectomy was done. The mass was resected and confirmed to be a functional parathyroid cyst. Patient's calcium levels returned to normal after excision. Genetic analysis of the mass showed a single missense mutation c.2164G>A (NM_000215), p.Val722ile (NP_000206) was identified representing the single-nucleotide polymorphism rs3213409 in the JAK3 gene. CONCLUSION: Parathyroid cysts, although rare, should be considered in a patient with a neck mass and hypercalcemia, We discussed the findings of our genetic analysis.

Halo naevi and leukotrichia are strong predictors of the passage to mixed vitiligo in a subgroup of segmental vitiligo.

BACKGROUND: Until now, segmental vitiligo has been considered as a stable entity and mixed vitiligo, the association of segmental and nonsegmental vitiligo, has been reported rarely. OBJECTIVES: The aim of this study was to search for factors associated with the generalization of vitiligo in patients with segmental vitiligo. PATIENTS AND METHODS: This was a prospective observational study conducted in the vitiligo clinic of the Department of Dermatology of Bordeaux, France. The Vitiligo European Task Force questionnaire was completed for each patient attending the clinic with a confirmed diagnosis of segmental vitiligo after exclusion of other forms of vitiligo (focal, mucosal, not classifiable.) Thyroid function and antithyroid antibodies were screened if not obtained in the previous year. RESULTS: One hundred and twenty-seven patients were recruited: 101 had segmental vitiligo and 26 had segmental vitiligo that evolved into mixed vitiligo; 56 were male and 71 were female. Most patients had onset of segmental vitiligo before the age of 18. When conducting multivariate analysis, we found the following to be independent factors associated with the evolution of patients' disease from segmental vitiligo to mixed vitiligo: initial percentage of body surface involvement of the segment >1% [odds ratio (OR) 15·14, P=0·002], the presence of halo naevi (OR 24·82, P=0·0001) and leukotrichia (OR 25·73, P=0·0009). CONCLUSIONS: Halo naevi association and leukotrichia at first consultation in segmental vitiligo are risk factors for the progression of segmental vitiligo to mixed vitiligo. In addition, this progression of segmental vitiligo to mixed vitiligo carries a stronger link if initial segmental involvement is situated on the trunk.

Depigmentation therapies for normal skin in vitiligo universalis.

If vitiligo involves most of the body, it might be easier to depigment the normal remaining skin rather than to attempt repigmentation. We reviewed the literature to date regarding available therapies for depigmenting the normal skin in vitiligo universalis. Our review revealed that the threshold regarding what percentage of body surface area qualifies as depigmentation is variable among practitioners. Monobenzyl ether of hydroquinone (MBEH) is the most widely used depigmenting agent and has few side-effects. Tretinoin in combination with MBEH is able to speed depigmentation of the skin. Monomethylether of hydroquinone has also been used successfully for depigmentation. Eighty-eight per cent phenol is also effective in depigmenting the skin but its application on large areas is toxic for liver and kidney. Different types of lasers are also available to destruct the melanocytes selectively, but this technique can be painful and expensive. Cryotherapy is a cheap depigmenting therapy but, because of scarring risk, it should only be used by experienced dermatologists. No trials have compared the efficacy of the above-mentioned well-established depigmentation agents/techniques. Certain drugs such as imatinib, imiquimod and diphencyprone, which are used to treat other diseases, caused depigmentation as a side-effect. Some depigmentation agents used for branding cattle can also serve as topical depigmentation agents. In conclusion, comparative clinical trials are needed to compare the efficacy of various depigmentation agents/techniques. In particular, topical imatinib, imiquimod and diphencyprone may be considered as potential depigmenting agents, which require further investigation. This review revealed that MBEH is safe and effective depigmenting agent.

A survey of vitiligo management among dermatologists in Saudi Arabia.

BACKGROUND: There are concerns that there is no uniform approach towards the management of vitiligo. Objectives To explore attitudes and strategies for the management of vitiligo among dermatologists. METHODS: A self-administered questionnaire containing 22 questions was distributed to 160 dermatologists attending a national dermatology conference in 2007. RESULTS: One hundred and twelve dermatologists responded to the questionnaire (70% response rate). We had 105 completed questionnaires (seven were excluded due to incompleteness). Active treatment of vitiligo was recommended by 96% in more than half of patients, while 79% recommended treatment at non-visible sites. Repigmentation was regarded as main treatment goal by 54%. Mid-potent topical steroids were widely prescribed for focal vitiligo (72% in children and 65% in adults). Use of tacrolimus and pimecrolimus was limited. The most common used phototherapy was 'narrowband ultraviolet B' (NBUVB; 36% and 40% for generaliased vitiligo in children and adults, respectively). The use of oral psoralen plus UVA (PUVA) was limited (8% for generalized vitiligo in adults). Few respondents (1-8% for different types of vitiligo) prescribed outdoor topical PUVA. Vitiligo surgery was advised mainly for segmental type (18% in adults and 5% in children). Depigmentation was the first option for universal vitiligo by 50% and 30% in adults and children, respectively. CONCLUSIONS: Most dermatologists are enthusiastic about active treatment of vitiligo even in hidden sites. Overall, the most two common treatment modalities were topical steroids and NBUVB. Vitiligo surgery is underutilized. Development of national practice guidelines is needed.

Current status of dermatology residency training in Saudi Arabia: trainees' perspectives.

A cross-sectional survey was conducted to look at different aspects of dermatology residency programmes in Saudi Arabia from the residents' perspective. Self-administered questionnaires about future plans, academic activities, examinations, training, workload, surgical procedures, residents' rights and satisfaction were distributed to all 27 residents in all training centres during March-May 2004; 22 (81%) responded. The survey found that 50% of residents were not satisfied with their training and felt they were inadequately trained. Experience of performing certain procedures was much less than for residents in a similar study in the United States of America, and 50% of residents had not received any dermatologic surgery training. Moreover, 36% of residents had been verbally humiliated during their training.