Gingival Recession: An Unusual Oral Presentation of Morphea "en coup de sabre".

A 21-year-old woman presented with a 13-year history of a linear lesion on the lip. She experienced no pain and only had an esthetic complaint. Her personal and family history was otherwise unremarkable. She had no history of photosensitivity, Raynaud's phenomenon, arthralgias, dry eyes, fever, trauma, or exposure to irradiation.

[Repigmentation in vitiligo universalis triggered by hemodialysis]. / Repigmentation d'un vitiligo universalis déclenchée par l'hémodialyse.

Vitiligo is an acquired depigmenting disorder. Vitiligo universalis is a rare form responsible for significant aesthetic damage. To date, the exact pathogenesis remains unknown. Its treatment, a real challenge, consists rather in removing the still pigmented areas. We report a case of a patient followed for stable vitiligo universalis from an early age who presented with repigmentation shortly after initiation of hemodialysis.

Congenital hemangioma.

Congenital hemangiomas (CHs) are fully developed hemangiomas that are present at birth. There are 2 possible types: rapidly involuting CHs (RICHs) and noninvoluting CHs (NICHs). We conducted a retrospective study (2008-2012) of 6 patients (2 females, 4 males) with CHs (mean age, 16 days). We analyzed the epidemiology, clinical characteristics, and clinical outcome of CHs over this 5-year period.

Aplasia cutis congenita: report of 22 cases.

BACKGROUND: Aplasia cutis congenita (ACC) is a rare malformation characterized by absent or scarred areas of skin at birth. Although most commonly found on the scalp, ACC can also involve other locations. Its etiology and pathogenesis remain unclear. OBJECTIVE: To describe the epidemiologic, clinical, therapeutic, and evolutionary aspects of ACC through a hospital series. METHODS: We conducted a retrospective study from 1995 to 2012 and reported all cases of ACC. RESULTS: We enrolled 22 cases (14 girls and eight boys) of ACC during 18 years. The mean age at diagnosis was 5.7 years. Sixteen ACC involved the scalp, five the trunk, and one the left buttock. ACC was oval-shaped in 20 cases, triangular in one case, and linear in one case. The mean size was 4 cm. ACC was associated with bone defects in two cases, various malformations in eight (37.1%), and with syndromic malformation in three (Adams-Olivier syndrome: two cases; Goltz syndrome: one case). Conservative treatment consisting of wound dressing with vaseline was indicated in six cases. Bone reconstruction was performed in two cases. Regular follow-up and no treatment was recommended in 14 cases. CONCLUSION: Our study emphasizes the frequent association of ACC with malformations (37.1%) and bone defects (9%).

Mutational founder effect in recessive dystrophic epidermolysis bullosa families from Southern Tunisia.

Dystrophic epidermolysis bullosa (DEB) is a group of heritable bullous skin disorders caused by mutations in the COL7A1 gene. One of the most severe forms of DEB is the severe generalized [recessive dystrophic epidermolysis bullosa (RDEB-SG)] subtype, which is inherited in an autosomal recessive manner. This subtype is most often due to COL7A1 mutations resulting in a premature termination codon on both alleles. We report here, the molecular investigation of 15 patients belonging to 14 nuclear families from the city of Sfax in Southern Tunisia, with clinical features of RDEB-SG complicated by squamous cell carcinoma in 3 patients. We identified two novel mutations, p.Val769LeufsX1 and p.Ala2297SerfsX91, in addition to one previously reported mutation (p.Arg2063Trp). The p.Val769LeufsX1 mutation was shared by 11 families and haplotype analysis indicated that it is a founder mutation. The p.Ala2297SerfsX91 mutation was a private mutation found in only one family. Together with the previously described recurrent mutations in Tunisia, screening for the founder p.Val769LeufsX1 mutation should provide a rapid molecular diagnosis tool for mutation screening in RDEB patients from Southern Tunisia and possibly from other Mediterranean populations sharing the same genetic background.