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We report three new mutations in PTEN, the gene responsible for Cowden disease in five patients with Bannayan-Riley-Ruvalcaba syndrome from three unrelated families. This finding confirms that Cowden disease, a dominant cancer predisposing syndrome, and Bannayan-Riley-Ruvalcaba syndrome, which includes macrocephaly, multiple lipomas, intestinal hamartomatous polyps, vascular malformations, and pigmented macules of the penis, are allelic disorders at the PTEN locus on chromosome 10q. [ABSTRACT FROM PUBLISHER]

Background: Collodion baby syndrome (CBS) is a pathological cutaneous condition present at birth and is due to the presence of a thick horny layer of the skin. Exfoliation begins early with drying and cracking of the collodion membrane. The cracks may either remain superficial or they may be deeper and affect the superficial dermis, in which case, fissures form. This study of CBS provides information on the clinical aspect of fissures, their incidence, their pathological consequences and therapeutic approaches., Patients and Methods: In our study, diagnosis of CBS was made clinically based on the presence of neonatal collodion membrane. Identification of typical cracks and fissures was made on clinical examination and their site, chronology and consequences were assessed. Routine bacteriological examination of fissures was performed twice weekly on a clinically infected specimen taken from an inguinal fissure. The therapeutic protocol for CBS has been validated and involved use of sterile vaseline oil. Fissures were disinfected., Results: Cracks are a constant feature. Fissures were seen in 20 of the 33 cases of CBS with the site of predilection being large skinfolds. Morphine was necessary for pain relief in three cases. Pathogenic organisms were isolated in all cases of inflammatory fissures. Dissemination of septicaemia was confirmed in four cases and the offending organism was isolated from the inflammatory fissures in all cases. Candida albicans was present in all cases of fissures in the inguinal folds or between the buttocks. Keratotic adhesions occurred after healing of digital fissures and a surgical procedure was required in this event., Discussion: Fissures are lesions occurring secondarily to cracks and they were seen in 20 of the 33 cases of CBS. These secondary lesions are rarely mentioned in the literature and the reasons for this oversight are discussed. Fissures are potential complications in all states of CBS, particularly where the collodion is thick. Topical treatment does not prevent transformation of cracks to fissures in all cases. Where fissures are not inflammatory, routine prescription of oral antibiotics is not always necessary. Regular bacteriological monitoring at several different fissure sites allows selection of appropriate antibiotic therapy. The main therapeutic goal in CBS is to treat painful fissures and superinfection.

Background: Reassessment of a previously published case report allowed correction of a misdiagnosis: a neonatal aspect of collodion baby with pilar dystrophy is evocative of trichothiodystrophy and not Netherton syndrome. Other than this published erroneous case report, there have been no other publications concerning Netherton syndrome mentioning this neonatal collodion baby status. It may be clearly stated that Netherton syndrome never begins with collodion baby status., Patients and Methods: The re-examined case concerned a girl with collodion baby syndrome presenting pilar dystrophy. At 2 years, an inaccurate diagnosis of Netherton syndrome was made despite the fact that the pilar dystrophy involved trichorrhexis nodosis with ichthyosis vulgaris. At 8 years, 13 years and 17 years, the diagnosis of trichothiodystrophy was posited in the presence of tiger-striping of the hair visible in polarised light together with low capillary cystine at only 51 p. 100 of the normal level. The phenotype obtained comprised ichthyosis, pilar dystrophy, low IQ and stunted growth of at least two standard deviations despite tall parents. There was no evidence of photosensitivity., Discussion: The state of baby collodion may or may not herald trichothiodystrophia. A review of 72 articles containing a clinical description of signs at the onset of trichothiodystrophy showed a relationship in 22 cases between this condition and collodion baby syndrome. The collodion baby phenotype is of moderate intensity with little or no facial dysmorphia. Microscopic examination of hair is alone able to orient diagnosis towards trichothiodystrophy. Microscopic examination of the hair with inspection under polarised light is essential to confirm an aetiological diagnosis of collodion baby. Collodion baby syndrome never leads to Netherton syndrome. In some cases, however, it may herald trichothiodystrophy.

Unlabelled: In children, chronic cervicofacial ulceration related to dental infection is rare. Thus the diagnosis is often late and the treatment is consequently delayed. We report 2 new cases., Cases Report: A 13-year-old boy presented with a 1-year history of chronic and suppurative ulceration on the right cheek. Culture was positive for actinomycetes. In spite of a prolonged and miscellaneous antibiotherapy, the lesion recured. The ulceration healed after the eradication of infection on a right superior molar. A 12-year-old girl presented with a right sub-mandibular ulceration, which appeared 3 months before. This lesion did not respond to penicillinotherapy given during 3 months. An infection on a right inferior molar was diagnosed on a tomodensitometry. 3 months after the tooth extraction, the ulceration healed without recurrence., Conclusion: These cases emphasize the interest to look for a dental infection at the origin of chronic cervicofacial lesion.