[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.

Evidence of chromosomal instability in the lymphocytes of Gorlin basal-cell carcinoma patients.

The Gorlin syndrome, or naevoid basal-cell carcinoma syndrome (NBCS) is an autosomal dominant disease. It has been suspected for long that this cancer prone disease (multiple basal-cell carcinomas; other malignant or benign proliferations) is a chromosome instability syndrome. We previously reported a lengthening in the cell cycle of lymphocytes from two patients with NBCS. With a larger sample (n = 7), we confirm this disease to be a chromosome instability syndrome, although clearly, expression of this characteristic can vary between patients: (1) spontaneous chromatid breaks occurred more often in a subset of the patients; (2) spontaneous micronuclei were found more frequently in NBCS than in the controls; (3) we confirm the cell cycle to be affected in this disease. As these results were obtained on lymphocytes--a cell lineage not affected in NBCS manifestations--the chromosome instability we found would appear to be part of the general condition of this syndrome.

Checks for chromosomal instability in Gorlin and non-Gorlin basal-cell carcinoma patients.

The naevoid basal-cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder with multiple basal-cell carcinomas, an increased risk for other neoplasms, and various malformations. Chromosome instability has been implicated in the pathogenesis of this syndrome, but these reports are somewhat contradictory. We have investigated five patients, two with confirmed NBCCS and three suspected. No evidence for chromosome instability was found in lymphocytes at three sample times after stimulation using metaphase aberration analysis, sister-chromatid exchange (SCE) in second division cells, or micronuclei. A significant lengthening of the cell cycle was found for the two confirmed NBCCS patients, but not for the suspected cases.

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.

Repeated skin expansion for excision of congenital giant nevi in infancy and childhood.

Three children with giant pigmented nevi were treated by repeated tissue expansion. Five flaps were expanded twice, and one flap was expanded three times. The delay between expansions was 4 to 15 months (mean 9 months). With full inflation, vascularization of the flap remained good. However, every new expansion decreased flap length by 50 percent. Overall results with this technique, especially in two infants with giant pigmented nevi involving respectively 20 and 40 percent of the body surface, have been most impressive. Only one major complication has occurred: erosion of the skin caused by a fold of the expander envelope resulting in exposure of the expander. This technique improves the early surgical management of giant pigmented nevi and may provide better long-term functional and cosmetic results.

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.

[Diverse aspects of congenital syphilis]. / Les divers aspects de la syphilis congénitale.

Together with the new rise of recent syphilis in the adult woman, congenital syphilis reappears sporadically in our countries, where prophylactic measures (prenatal serology) are sometimes defeated. It remains much more frequent in developing countries. One should know how to interpret a positive serology in a newborn, as it may only reflect passive transplacental transfer of maternal antibodies. One should on the other hand think of syphilis again when the clinical signs are more or less suggestive, the typical picture not being, by far, the most frequent. In spite of the efficacy of Penicillin G: 50,000 U/kg/day during 10 days, neonatal death rate for congenital syphilis is in the neighbourhood of 10%. Our major effort should therefore be aimed at prevention.

[Nasal ulceration and trigeminal sensitive neuropathy. Apropos of a case and a review of the literature]. / Ulcération nasale et neuropathie trigéminale sensitive. A propos d'une observation et revue de la littérature.

A case of isolated trigeminal sensitive neuropathy revealed by a nasal ulceration is reported. Such case is quite unusual and requires a very thorough search for any local lesion or general pathology. The treatment is often disappointing.

[A case of Richner-Hanhart syndrome (tyrosinosis with ocular, cutaneous and mental manifestations]. / Un cas de syndrome de Richner-Hanhart (Tyrosinose à manifestations oculaires, cutanées et mentales).

A case of Richner-Hanhart syndrom with tyrosinemia is being reported. The diagnosis was suggested from clinical manifestations of this syndrom : superficial opacities of the cornea in an infant preceeding hyperkeratosis of the palms and soles and mild mental retardation. It has been confirmed by the high levels of blood tyrosine. The introduction of a diet low in tyrosine and alanine has lead to a rapid improvement and finally a complete cure of the ophthalmological and dermatological symptoms. The normal metabolism of tyrosine is recalled as well as the specific metabolic aberration responsable for this syndrom (deficiency of cytosol tyrosine amino-transferase). This case is being compared with those which have been previously reported.

[Cicatricial ectropion and lamellar icthyosis (author's transl)]. / Ectropion cicatriciel au cours d'une ichtyose lamellaire.

The authors describe the surgical procedure employed in a case of bilateral cicatricial ectropion (superior and inferior), occurring during the course of a lamellar icthyosis. Total skin homografts should be applied before the appearance of severe corneal lésions on both eyelids, inferior and then superior. Two factors have to be emphasized: the apparent appearance of rejection of the grafts when the first dressings are made, and the progressive retraction of the homografts which requires repeated graft applications.

[X-linked genodermatoses]. / Génodermatoses liées à l'X.

Chromosome X is one of the best genetically defined. Many disease loci are assigned to this chromosome, due to the peculiar mode of inheritance of X-linked disorders. Chromosome X undergoes X-inactivation in females. Recombination with chromosome Y occurs at pseudoautosomal regions. Some features of X-linked genodermatoses are a consequence of these phenomenons: variable expression, topography following Blaschko's lines. This can be seen in incontinentia pigmenti, focal dermal hypoplasia or hypohidrotic ectodermal dysplasia. Deletions at the pseudoautosomal region may cause contiguous gene syndromes. Hence ichthyosis with steroid-sulfatase deficiency may occur in association with various disorders. Transmitting females should be recognized by clinical examination or molecular studies, as this represents the main point in genetic counselling.

[Cutaneous expansion by inflatable implant]. / L'expansion cutanée par implant gonflable.

The capacity of the skin to stretch and expand, as shown in pregnancy, has been used by Radovan who, in 1976, introduced skin expanders made of silicone. These are empty balloons of different sizes and shapes which are surgically placed under the skin and gradually filled with saline. The saline solution is introduced through a valve with a syringe and a 21 G needle. Skin expansion usually requires 6 to 8 weeks to be completed. Transient redness of the skin is frequently observed. A thin capsule can be found around the expander but does not need to be removed. The excess skin can be utilized as advancement flap, rotation flap or even two-stage distant flap. Our experience is based on 33 expansions performed in 26 patients (table I). Giant naevi were the most frequent lesions treated (20 cases), and face, scalp and neck were the most frequent localizations (27/33 cases) (table II). Complications occurred in 21 p. 100 of the cases, and 5 expanders had to be removed. Nevertheless, expansion could be completed in most cases, sometimes after replacement of the prosthesis. The results of repair surgery using expanded skin have always been satisfactory: in colour and texture the expanded skin was similar to that of adjacent areas, and sensation was preserved. Skin expansion in fact made it possible to perform local flaps--which usually represent the best solution for skin replacement--by creating hyperlaxity in areas adjacent to the pathological areas. There has been no retraction of the expanded skin, and the scars have shown no tendency to hypertrophic reaction or distension.(ABSTRACT TRUNCATED AT 250 WORDS)

[Radical excision of giant abdominal nevi in infants. Apropos of 3 cases]. / Exérèse radicale des naevus géants de l'abdomen chez le nourrisson. A propos de 3 cas.

Total removal of giant naevi with a minimal residual scar is of course ideal for prevention of malignancy and obvious psychological reasons. One can take advantage of the excess of skin existing in infants to be able to perform such wide excisions with immediate closure. Three cases of abdominal wall excisions in infants are presented, one of the upper abdomen at 9 months, two of the lower abdomen, at 3 months and 6 months. In all cases, a wide undermining was performed to allow the immediate closure. For the two lower abdominal excisions, preservation and transposition of the umbilicus were performed, like on an aesthetic abdominoplasty in adults. The blood loss was minimized by infiltration with epinephrine and meticulous hemostasis. Healing was uneventful. The scars, with a one to two years follow-up, are smooth and fine, and there are no change of contour. Progress in pediatric anesthesiology has resulted in the fact that a large excision and repair in infants presents no more potential dangers than operation performed later. Feasibility of such early wide excisions has been explored in other areas of the body; however, the abdominal wall is the area of choice.

[Acute haemorrhagic edema of the skin of the new-born with lethal intestinal complication (author's transl)]. / Oedème aigu hémorragique du nourrisson avec complication léthale digestive.

A child, eleven months old, presented with an A. H. O. after an otitis. The dermatologic aspect is typical with oedema and target-like hemorrhagies. The disease evolved in three successive episodes. During the second one two intestinal intussuceptions occurred. It was necessary to proceed to an intestinal resection of twenty centimeters of the small bowel and of the right part of the large bowel. The post-operative period has been complicated by an intravascular coagulation, perforation of small bowel and peritonis due to Proteus bacillus. The child died during these complications. This evolution looks like an anaphylactoid purpura of Schönlein-Henoch. But this does not allow to affirm that these two allergic vasculitis are related to the same etiology. Our own observation suggests the necessity of watching the coagulation rate when an acute haemorrhagic oedema is complicated by bowel's intussusception.

[Caustic diaper dermatitis and encephalitis secondary to the application of talcum contaminated with hexachlorophene]. / Dermite caustique du siège et encéphalite secondaires à l'application de talc contaminé par l'hexachlorophène.

Five observations of infants with transcutaneous intoxication by 6,3 p. 100 hexachlorophene contaminated talcum powder are reported. The diaper dermatitis is particular because of its topography (red pants shape), of its sudden occurring, of its papyraceous aspect evoking caustic origin, and of its association with severe encephalopathy. The neurological signs start with epileptic fits leading rapidly to coma. Prognosis is serious leading either to death or to paraplegia. Enquiry on that epidemic shows that mortality raised up to 18 p. 100. The neurological signs with oedematous degeneration of myelin are characteristic of hexachlorophene toxicity. Plasma levels of toxics range up to 15,94 mg/ml i.e. 30 times more than the rates observed by Curley in a premature washed with a commercial solution containing 3 p. 100 hexachlorophene. During a toxic neurological syndrome, the existence of diaper dermatitis with red plants shape must lead to an aetiological diagnosis of the possibility of transcutaneous intoxication even if the product seems as harmless as talcum powder.

[Darier's erythema annulare centrifugum of neonatal onset with a 15 years' follow-up. Efficacy of interferon and role of cytokines]. / Erythème annulaire centrifuge de darier à ddebut néonatal avec 15 ans de suivi. Efficacité de l'interféron et rôle de cytokines.

INTRODUCTION: Darier's erythema annulare centrifugum (EAC) is a disease of unknown etiology. Some observations of EAC in infancy suggest a better prognosis for early EA. The observations presented herein gives different information regarding prognosis and pathogenesis. OBSERVATION: A child presents with typical lesions of EAC from early infancy up to the age of 15 years. Laboratory data are normal. Similar lesions were locally reproduced by intradermal injection by candidine but antifungal drugs were unsuccessful. Many antiinflammatory treatments failed to improve the disease. Because of the improvement during hyperthermic episodes, a treatment by subcutaneous interferon alpha (2 millions U 3 times a week) was given for six months with a dramatic success (with seric increase of TNF alpha and IL2) DISCUSSION: The long term duration of EAC suggests that EA of infancy may represent the early beginning of Darier's EAC. The efficacy of interferon suggests that cytokines are involved in the pathogenesis of EAC.

[Collodion baby: 32 new case reports]. / Bébé collodion. Trente-deux nouvelles observations.

A critical study of 69 cases of collodion baby observed between 1976 and 1984 is compared with the study conducted in 1976. These 69 cases are divided into 32 examined by the authors personally and 37 published in the literature. The total number of collodion babies is 267. A collodion baby is a high risk newborn who must be nursed in a specialized intensive care unit during the neonatal period. The vital prognosis has been improved by the prevention of metabolic disorders (dehydration with hypernatraemia) and of percutaneous intoxication with topical products, and by the early treatment of infections. The mortality rate, which was 33 p. 100 in 1976, had fallen to 11 p. 100 in 1984. Skin infection with systemic spread remains the major complication (the present situation is summarized in table II). The collodion baby is the neonatal expression of different disorders of keratinization and as such, constitutes a syndrome. Several conclusions can be drawn from a comparison of the keratinization disorders observed in our two series (table VI). Congenital ichthyosiform erythroderma and lamellar ichthyosis are responsible for 60 p. 100 of collodion babies. These two lesions may be the first signs of an ichthyosis transmitted as an autosomal dominant trait in 9.7 p. 100 of the cases. Trichothiodystrophy may be heralded by a collodion baby syndrome. In 9.7 p. 100 of the cases this syndrome disappears without sequelae. Sex-linked ichthyosis never begins with a collodion baby syndrome.

[Acute pityriasis rubra pilaris in the child. Apropos of 4 cases]. / Le pityriasis rubra pilaire aigu de l'enfant. A propos de 4 observations.

Four cases of Pityriasis Rubra Pilaris of an acute type have been studied in three to six year old children. In three cases the disease occurred after an infection; in one out of these three cases this infection was serologically confirmed as being german measles. In the beginning, only the face is affected or the face and other part of the body. The rash looks like scarlet fever and the folicular papules appear only during the second stage. The dermatosis usually spreads within a month (from twenty days to two months) and covers the whole body without becoming erythrodermic. Then clinical picture is typical of Pityriasis Rubra Pilaris. There are no associated symptoms and no hypo-vitaminemia A is evidenced. The evolution is self limited with a spontaneous regression within three months, and there is no recurrence. These cases are similar to the classical juvenile Pityriasis Rubra Pilaris type III of Griffiths, but they keep their own particularities as far as acute evolution and good prognosis are concerned.