No abstract

Mal de Meleda (MDM) is a rare, autosomal recessive form of palmoplantar keratoderma. It is characterized by erythema and hyperkeratosis of the palms and soles that progressively extend to the dorsal surface of the hands and feet. It is caused by mutations in SLURP-1 gene encoding for secreted mammalian Ly-6/uPAR-related protein 1 (SLURP-1). We performed mutational analysis by direct sequencing of SLURP-1 gene in order to identify the genetic defect in three unrelated families (families MDM-12, MDM-13, and MDM-14) variably affected with transgressive palmoplantar keratoderma. A spectrum of clinical presentations with variable features has been observed from the pronounced to the transparent hyperkeratosis. We identified the 82delT frame shift mutation in the SLURP-1 gene in both families MDM-12 and MDM-13 and the missense variation p.Cys99Tyr in family MDM-14. To date, the 82delT variation is the most frequent cause of MDM in the world which is in favour of a recurrent molecular defect. The p.Cys99Tyr variation is only described in Tunisian families making evidence of founder effect mutation of likely Tunisian origin. Our patients presented with very severe to relatively mild phenotypes, including multiple keratolytic pits observed for one patient in the hyperkeratotic area which was not previously reported. The phenotypic variability may reflect the influence of additional factors on disease characteristics. This report further expands the spectrum of clinical phenotypes associated with mutations in SLURP1 in the Mediterranean population.

Subscribe to PCMR and stay up-to-date with the only journal committed to publishing basic research in melanoma and pigment cell biology As a member of the IFPCS or the SMR you automatically get online access to PCMR. Sign up as a member today at www.ifpcs.org or at www.societymelanomaresarch.orgIf you wish to order reprints of this article, please see the guidelines here Submit your next paper to PCMR online at http://mc.manuscriptcentral.com/pcmr

Our series of LPPI seems that this disorder is underreported mainly among 3 dark-skinned persons as we have seen these ten cases within three years.

BackgroundAtopic dermatitis (AD) is a heterogeneous disease. Thus, it is difficult to set up standard diagnostic criteria that cover the entire spectrum of AD patients. Our objectives were to study the epidemiologic characteristics of AD in Tunisia and to evaluate five diagnostic criteria (Hanifin and Rajka, Williams, Taieb and Boralevi, REACH and ISAAC questionnaire).MethodsThis prospective case‐control study was carried out in our Dermatology Department in Tunisia. The cases and controls were collected over a period of one year (January 3, 2017, to January 2, 2018).ResultsWe collected 101 patients with AD and 101 controls. Patients and controls were comparable by age and gender. The mean age of patients was 9 years and 9 months with sex ratio 1.02. Children accounted for more than half of the patients (61.39%). The sensitivity and specificity of the criteria were, respectively: 90.1% and 90.1% for the Hanifin and Rajka criteria, 53.47% and 96.04% for the Williams criteria, 62.50% and 92.3% for the Taieb and Boralevi criteria, 41.58% and 92.08% for ISAAC questionnaire, 49.5% and 91.09% for REACH questionnaire. A new version of AD diagnostic criteria has been proposed. By applying these new criteria retrospectively to our patients, the sensitivity rises to 90.1%.ConclusionThe new version of AD criteria is a practical diagnostic tool compared to the Hanifin and Rajka criteria and seems to correct the problem of low sensitivity of the Williams criteria. Large validation studies are needed.