[Cutaneous fissures in collodion babies: incidence and treatment]. / Les fissures cutanées du bébé collodion: incidence et prise en charge.

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.

[Collodion baby with neonatal signs of trichothiodystrophy misdiagnosed as Netherton syndrome: reassessment of a previous diagnostic error]. / Bébé collodion révélant une trichothiodystrophie confondue avec un syndrome de Netherton: réévaluation d'une erreur de diagnostic.

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.

[Cervicofacial ulcerations caused by dental infection in children]. / Ulcérations cervicofaciales liées à un foyer infectieux dentaire chez l'enfant.

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.

[Pigmented Paget's disease of the male nipple]. / Maladie de Paget pigmentée du mamelon chez l'homme.

BACKGROUND: Mammary Paget's disease unfrequently occurs in males, and may be pigmented in rare instances. Differential diagnosis with malignant melanoma relies on immunohistochemical studies. CASE REPORT: A case of Paget's disease of the nipple in a 76 year-old male is reported, clinically mimicking a malignant melanoma because of massive pigmentation. Histologically, large Paget's clear cells were intermingled with numerous melanin-rich dendritic melanocytes. An underlying ductal carcinoma was found. After differential immunohistochemical staining, diagnosis of Paget's disease could be unequivocally substantiated since Paget's cells stained for epithelial markers, c-erbB-2 and hormonal receptors, whereas protein S100 and HMB45 were negative. DISCUSSION: Pigmentation in mammary Paget's disease occurs preferentially in males. Pigmentation results from numerous melanocytes with abundant melanin in close contact with Paget's cells. An increased number of melanocytes may also be observed in cutaneous metastatic breast carcinomas. It could result from a chemotactic factor produced by neoplastic cells.

[Imported cutaneous leishmaniasis caused by Leishmania infantum confirmed with immunoassay]. / Leishmaniose cutanée autochtone due à Leishmania infantum confirmée par immunoempreinte.

BACKGROUND: Localized cutaneous leishmaniasis acquired in France is rarely reported. Diagnosis usually relies on detection of leishmania on smears or by culture. CASE REPORT: A 9-year-old child living outside endemic French Mediterranean areas had long-lasting crusted papules on the face for several months. Although the lesions were suggestive of cutaneous leishmaniasis, smears and culture were negative for Leishmania. Skin biopsy showed epithelioid and giant cell granuloma, but Leishman bodies were absent. Western Blot analysis of the patient's serum revealed antibodies directed against Leishmania infantum antigens, thus confirming the diagnosis of cutaneous leishmaniasis. Intralesional injections of meglumine antimoniate yielded complete regression of lesions. DISCUSSION: Localized cutaneous leishmaniasis in France is caused by Leishmania infantum and may be diagnosed outside endemic Mediterranean areas, following transmission from a sandfly bite during summer holidays in Southern France. Serum analysis by Western Blot assay distinguishes between clinically active and asymptomatic Leishmania infections, the latter being common in endemic areas. Western Blot analysis is useful for the diagnosis of cutaneous leishmaniasis when parasites cannot be detected by direct techniques.

Olmsted syndrome: report of two new cases and literature review.

Olmsted syndrome is a rare keratinization disorder; 18 cases have been published so far. It associates a mutilating cogenital palmoplantar keratoderma with periorificial erythematokeratotic lesions. We report herein two new unrelated male children with Olmsted syndrome (OS), one of whom was studied by light and electron microscopy. Our histological, immunohistochemical, and ultrastructural findings suggest that this disease is related to epidermal hyperproliferation. We present herein a review of the twenty cases published so far and discuss the major clinicopathological and genetic features of this disease.

Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump.

Hailey-Hailey disease (HHD) is an autosomal dominant skin disorder characterized by suprabasal cell separation (acantholysis) of the epidermis. Previous genetic linkage studies localized the gene to a 5 cM interval on human chromosome 3q21. After reducing the disease critical region to <1 cM, we used a positional cloning strategy to identify the gene ATP2C1, which is mutated in HHD. ATP2C1 encodes a new class of P-type Ca(2+)-transport ATPase, which is the homologue for the rat SPLA and the yeast PMR1 medial Golgi Ca(2+)pumps and is related to the sarco(endo)plasmic calcium ATPase (SERCA) and plasma membrane calcium ATPase (PCMA) families of Ca(2+)pumps. The predicted protein has the same apparent transmembrane organization and contains all of the conserved domains present in other P-type ATPases. ATP2C1 produces two alternative splice variants of approximately 4.5 kb encoding predicted proteins of 903 and 923 amino acids. We identified 13 different mutations, including nonsense, frameshift insertion and deletions, splice-site mutations, and non-conservative missense mutations. This study demonstrates that defects in ATP2C1 cause HHD and together with the recent identification of ATP2A2 as the defective gene in Darier's disease, provide further evidence of the critical role of Ca(2+)signaling in maintaining epidermal integrity.

Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping.

Netherton syndrome (NS [MIM 256500]) is a rare and severe autosomal recessive disorder characterized by congenital ichthyosis, a specific hair-shaft defect (trichorrhexis invaginata), and atopic manifestations. Infants with this syndrome often fail to thrive; life-threatening complications result in high postnatal mortality. We report the assignment of the NS gene to chromosome 5q32, by linkage analysis and homozygosity mapping in 20 families affected with NS. Significant evidence for linkage (maximum multipoint LOD score 10.11) between markers D5S2017 and D5S413 was obtained, with no evidence for locus heterogeneity. Analysis of critical recombinants mapped the NS locus between markers D5S463 and D5S2013, within an <3.5-cM genetic interval. The NS locus is telomeric to the cytokine gene cluster in 5q31. The five known genes encoding casein kinase Ialpha, the alpha subunit of retinal rod cGMP phosphodiesterase, the regulator of mitotic-spindle assembly, adrenergic receptor beta2, and the diastrophic dysplasia sulfate-transporter gene, as well as the 38 expressed-sequence tags mapped within the critical region, are not obvious candidates. Our study is the first step toward the positional cloning of the NS gene. This finding promises a better understanding of the molecular mechanisms that control epidermal differentiation and immunity.

Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.

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.

Malignant blue nevus: three new cases and a review of the literature.

Three patients with malignant blue nevus are reported-one on the right side of the body, one on the right arm, and one on the face. The criteria and difficulty of histopathological diagnosis are considered as well as the differential diagnoses for this tumor. The therapy is described, and the possible relations between malignant blue nevus and certain other tumors (e.g., atypical or locally aggressive cellular blue nevus) are explored. A review of the literature reveals that there is current disagreement about the exact prognosis for these tumors and indicates the need to collect data for all patients observed.

Refined genetic mapping of the darier locus to a <1-cM region of chromosome 12q24.1, and construction of a complete, high-resolution P1 artificial chromosome/bacterial artificial chromosome contig of the critical region.

Darier disease (DD) (MIM 124200) is an autosomal dominant skin disorder characterized by loss of adhesion between epidermal cells and by abnormal keratinization. We present linkage analysis showing, in four families, key recombination events that refine the location of the DD locus on chromosome 12q23-24.1 to a region of <1 cM. We have constructed a YAC/P1 artificial chromosome (PAC)/bacterial artificial chromosome (BAC)-based physical map that encompasses this refined DD region. The map consists of 35 YAC, 69 PAC, 16 BAC, and 2 cosmid clones that were ordered by mapping 54 anonymous sequence-tagged sites. The critical region is estimated to be 2.4 Mb in size, with an average marker resolution of 37.5 kb. The refinement of the critical interval excludes the ALDH2, RPL6, PTPN11, and OAS genes, as well as seven expressed sequence tags (ESTs) previously mapped in the DD region. The three known genes (ATP2A2, PPP1CC, and SCA2) and the 10 ESTs mapped within the critical region are not obvious candidates for the DD gene. Therefore, this detailed integrated physical, genetic, and partial transcript map provides an important resource for the isolation of the DD gene and, possibly, other disease genes.

The naevoid basal-cell carcinoma syndrome (Gorlin syndrome) is a chromosomal instability syndrome.

The Gorlin syndrome, or naevoid basal-cell carcinoma syndrome (NBCS) is an autosomal dominant cancer prone disease (at risk of multiple basal cell carcinomas, and other malignant or benign proliferations). We have previously reported data from peripheral blood lymphocytes of patients with this condition, showing a significant level of spontaneous chromatid and chromosome rearrangements and an overall lengthening of the cell cycle. In this paper, we confirm this disease to be a chromosome instability syndrome from studies on fibroblasts of 5 patients. Spontaneous chromosomal rearrangements, an increased frequency of sister chromatid exchanges and a slowing of the cell cycle were found, compared to age-matched control material. There was also an increased sensitivity to aberration production by mechlorethamine in patient fibroblasts. The chromosome instability we found was not restricted to a given cell lineage, but appears to be part of the general condition of this syndrome. The recently discovered gene responsible for Gorlin syndrome, PTC (or PTCH), encodes a transmembrane protein with yet poorly known functions. However, the demonstration of Gorlin syndrome as a chromosome instability syndrome suggests that this protein has a role in DNA maintenance, repair and/or replication.

[Febrile toxiderma in children]. / Toxidermies fébriles de l'enfant.

Febrile cutaneous drug reactions in the child represent 6% of paediatric hospitalizations for dermatologic reasons. Diagnosis is difficult, for both infectious diseases and drug allergy can induce the same skin reaction. The same eruption can correspond to several drug-induced reactions. In a single child, there may be several causes of skin eruption and several drugs inducing similar cutaneous reactions. Clinical diagnosis and the method of clinical imputability lead to diagnosis. Paraclinical methods are of limited interest. Symptomatic treatment is begun on emergency admission. Upon identification, the responsible drug can be withheld and the authorities responsible for post-marketing surveillance can be notified.

[Hemifacial atrophy. A case report associated with linear scleroderma]. / Atrophie hémifaciale. A propos d'un cas dans une sclérodermie en bandes.

The authors report a case of facial hemiatrophy, secondary to linear scleroderma, and review the various possible causes of facial hemiatrophy. The various treatments proposed to correct facial hemiatrophy are described. The advantages and disadvantages of each technique together with their indications as a function of the severity of the lesions are then discussed. Free flap currently appears to be the treatment of choice in severe forms and the main question concerns the choice of flap. The authors prefer an inverted dermal fat flap because of its advantages (absence of long-term ptosis, better facial contours) and the absence of laparotomy.