X. Balguerie

A prospective study of risk for Sturge-Weber syndrome in children with upper facial port-wine stain

BACKGROUND Upper facial port-wine stain (PWS) is a feature of Sturge-Weber syndrome (SWS). Recent studies suggest that the distribution of the PWS corresponds to genetic mosaicism rather than to trigeminal nerve impairment. OBJECTIVES We sought to refine the cutaneous distribution of upper facial PWS at risk for SWS. METHODS This was a prospective multicenter study of consecutive cases of upper facial PWS larger than 1 cm² located in the ophthalmic division of trigeminal nerve distribution in infants aged less than 1 year, seen in 8 French pediatric dermatology departments between 2006 and 2012. Clinical data, magnetic resonance imaging, and photographs were systematically collected and studied. PWS were classified into 6 distinct patterns. RESULTS In all, 66 patients were included. Eleven presented with SWS (magnetic resonance imaging signs and seizure). Four additional infants had suspected SWS without neurologic manifestations. Hemifacial (odds ratio 7.7, P = .003) and median (odds ratio 17.08, P = .008) PWS patterns were found to be at high risk for SWS. A nonmedian linear pattern was not associated with SWS. LIMITATIONS Small number of patients translated to limited power of the study. CONCLUSIONS Specific PWS distribution patterns are associated with an increased risk of SWS. These PWS patterns conform to areas of somatic mosaicism. Terminology stipulating ophthalmic division of trigeminal nerve territory involvement in SWS should be abandoned.

Brunsting-Perry cicatricial bullous pemphigoid: A clinical variant of localized acquired epidermolysis bullosa?

An 84-year-old man who had the typical clinical features of Brunsting-Perry cicatricial pemphigoid is described. Direct immunofluorescence microscopic examination of salt-split skin revealed linear deposits of IgG and C3 on the floor of the artificial bullae. Direct immunoelectron microscopic examination of peribullous skin showed dermal cleavage level below the lamina densa and granular deposits of IgG and C3 attached to and below the lamina densa in a pattern identical to epidermolysis bullosa acquisita. These findings suggest that Brunsting-Perry cicatricial pemphigoid may represent a clinical variant of epidermolysis bullosa acquisita.

Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes

The microphthalmia-associated transcription factor (MITF) is a basic helix-loop-helix leucine zipper transcription factor, which regulates melanocyte development and the biosynthetic melanin pathway. A notable relationship has been described between non-truncating mutations of its basic domain and Tietz syndrome, which is characterized by albinoid-like hypopigmentation of the skin and hair, rather than the patchy depigmentation seen in Waardenburg syndrome, and severe hearing loss. Twelve patients with new or recurrent non-truncating mutations of the MITF basic domain from six families were enrolled in this study. We observed a wide range of phenotypes and some unexpected features. All the patients had blue irides and pigmentation abnormalities that ranged from diffuse hypopigmentation to Waardenburg-like patches. In addition, they showed congenital complete hearing loss, diffuse hypopigmentation of the skin, freckling and ocular abnormalities, more frequently than patients with MITF mutations outside the basic domain. In conclusion, the non-truncating mutations of the basic domain do not always lead to Tietz syndrome but rather to a large range of phenotypes. Sun-exposed freckles are interestingly observed more frequently in Asian populations. This variability argues for the possible interaction with modifier loci.

Balloon cell nevus: Histologic and dermoscopic features

rtment of Dermatology and Department of Anatomical thology and Cytology, Rouen University Medical Center, ance. ing sources: None. licts of interest: None declared. int requests: Florie Dhaille, MD, CHU d’Amiens, Avenue Ren e ennec, 80054 Amiens cedex 1, France. E-mail: floriedhaille@ ail.com. J Am Acad Dermatol 2015;72:e55-6. 0190-9622/

Scleroderma-like cutaneous lesions induced by paclitaxel: A case study

36.00 a 2014 by the American Academy of Dermatology, Inc. http://dx.doi.org/10.1016/j.jaad.2014.10.035