Beard infantile hemangioma and subglottic involvement: are median pattern and telangiectatic aspect the clue?

BACKGROUND: Identification of patient at risk of subglottic infantile hemangioma (IH) is challenging because subglottic IH can grow fast and cause airway obstruction with a fatal course. OBJECTIVE: To refine the cutaneous IH pattern at risk of subglottic IH. METHODS: Prospective and retrospective review of patients with cutaneous IH involving the beard area. IHs were classified in the bilateral pattern group (BH) or in the unilateral pattern group (UH). Infantile hemangioma topography, subtype (telangiectatic or tuberous), ear, nose and throat (ENT) manifestations and subglottic involvement were recorded. RESULTS: Thirty-one patients (21 BH and 10 UH) were included during a 20-year span. Nineteen patients (16 BH and 3 UH) had subglottic hemangioma. BH and UH group overlap on the median pattern (tongue, gum, lips, chin and neck). Median pattern, particularly the neck area and telangiectatic subtype of IH were significantly associated with subglottic involvement. CONCLUSION: Patients presenting with telangiectatic beard IH localized on the median area need early ENT exploration. They should be treated before respiratory symptoms occur.

Lymphomatoid papulosis in children: a series of 25 cases.

BACKGROUND: Lymphomatoid papulosis (LyP) is an uncommon cutaneous T-cell lymphoproliferative disorder (CTLPD) rarely encountered in children. OBJECTIVES: To specify characteristics of paediatric LyP and to describe both diagnostic difficulties and the course of the disease with the experience of 10 years' follow-up. METHODS: This was a retrospective, single-centre study of 25 children diagnosed with LyP according to the 2008 World Health Organization guidelines, and a clinical and pathological correlation by two experts. RESULTS: The mean age at onset was 7·5 years. The lesions were mostly papulonodular with frequent pruritus (40%). Mucosal involvement was sometimes observed. A single ulcerative nodule was initially suggestive of a primary cutaneous anaplastic large-cell lymphoma (C-ALCL). Pityriasis lichenoides was associated in 36% of cases, atopic dermatitis in 28% and nonspecific infections in 28%. Complete remission was observed in 44% of cases. Through the mean follow-up of 10 years, none of our patients have experienced lymphoma occurrence. Histopathological subtype A clearly predominated (82%). A marked eosinophilic infiltrate was present in 44% of cases and a cutaneous T-gamma clone in 40%. No correlation was observed between histopathological subtype, cutaneous clone or LyP clinical course. CONCLUSIONS: Paediatric LyP belongs to the group of CD30-positive CTLPDs including C-ALCL. Children have to be carefully followed up lifelong, even if the prognosis appears good. The high frequencies of an associated viral infection, atopic dermatitis, marked eosinophilic infiltrate and a good outcome suggest that paediatric LyP could be considered a reactional disease rather than a malignant disorder.

Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome.

We describe here eleven different mutations in SPINK5, encoding the serine protease inhibitor LEKTI, in 13 families with Netherton syndrome (NS, MIM256500). Most of these mutations predict premature termination codons. These results disclose a critical role of SPINK5 in epidermal barrier function and immunity, and suggest a new pathway for high serum IgE levels and atopic manifestations.

Nutritional outcome in children with severe generalized recessive dystrophic epidermolysis bullosa: a short- and long-term evaluation of gastrostomy and enteral feeding.

BACKGROUND: Generalized recessive dystrophic epidermolysis bullosa (RDEB) is often complicated by high nutritional difficulties with risks of malnutrition. OBJECTIVES: To provide information regarding the benefits of enteral feeding by gastrostomy (GTF), energy and protein requirements, tolerance, growth and pubertal development in children with RDEB. METHODS: Twenty-four patients were referred over a 7-year period in a retrospective study. Gastrostomy placement was decided in patients unable to feed orally and/or presenting loss in weight and height of at least 1 SD compared with their best growth level, despite regular nutritional advice. Weight and height were expressed as Z-scores. Catch-up growth following GTF onset was studied. RESULTS: Gastrostomies were performed in 11 children (aged 9·0±5·8years), and one young man aged 18years. The body weight Z-score was -2·3±1·0, height Z-score 1·1±1·1, weight-for-height was 81±11% and height-for-age 95± 4%. At onset, GTF provided 74±21% and 180±81% of the recommended dietary allowance (RDA) for energy and proteins, respectively. At study update (53±20months), GTF provided 91±29% and 205±100% of RDA for energy and proteins, respectively. Weight-for-height reached 92±15% and height-for-age 98±5%. A normal puberty was obtained when GT was performed before the age of 10years. Skin was not improved. CONCLUSION: Malnutrition was observed in 50% of the children with generalized RDEB. Protein and energy needs are particularly high. GTF is well tolerated and helps with catch-up growth and puberty. It must be considered before malnutrition onset, and, if necessary, before puberty.

Reversal effects of topical retinoic acid on the skin of kidney transplant recipients under systemic corticotherapy.

The systemic long-term corticosteroid treatment administered to kidney graft recipients (KGR) within the framework of the required immunosuppressive therapy induces an atrophy of the skin, from the sixth month onwards. We studied the effect of topical all-trans retinoic acid (0.05%; Galderma Labs.) applied to the forearms of 27 KGR (14 men, 13 women) over a 6-month period. Twenty-four subjects completed the trial. The following results were obtained in the treated forearm versus the untreated forearm (excipient alone): clinically, an increase in skin thickness; by noninvasive techniques, an increase in skin thickness, skin elasticity, skin conductance, and TEWL, and a reduction in the size of the corneocytes. No change in stratum corneum lipid content was observed. A sex-related difference was noted in the response to treatment under our experimental conditions, the female patients responding better. A punch biopsy (4 mm) was performed on both forearms of four patients after the 6-month period. Histologic and ultrastructural examination revealed epidermal and dermal changes evoking increased cellular metabolism in the retinoic acid-treated forearms.

Randomised double-blind placebo-controlled trial of local cyclosporin in atopic dermatitis.

The efficacy of local applications of 10% cyclosporin gel was studied in a randomised double-blind placebo-controlled trial in atopic dermatitis. Twenty atopic patients, presenting with stable symmetrical lesions, participated in the study. They applied cyclosporin gel to one side and placebo gel to the other side twice a day. The lesions were assessed on day 0 and day 14 according to lesional criteria scored from 0 to 3. The mean score for each criterion on day 14 was significantly lower on the sides treated with cyclosporin than on the sides treated with placebo. The total mean score on day 14 was 6.1 +/- 3.9 on the sides treated with CSA and 9.6 +/- 3.9 for placebo (p less than 0.005). These findings suggest the efficacy of local CSA applications on lesions of atopic dermatitis.

[Chronic urticaria in children]. / Les urticaires chroniques de l'enfant.

Chronic urticaria (more than 6 weeks) in childhood is rare; either the history and the clinical examination are very important to make distinction between "isolated chronic urticaria" and "urticaria associated with systemic diseases". The etiologic factors responsible for "isolated chronic urticaria" are parasitologic, infectious diseases, drugs, physical factors. If those are not present, the question of food responsibility will be discuss.

[Digestive involvement in dystrophic recessive epidermolysis bullosa. Apropos of 6 cases and review of the literature]. / Atteinte digestive au cours de l'épidermolyse bulleuse dystrophique récessive. A propos de six cas et d'une revue de la littérature.

Six personal cases of digestive tract involvement in dystrophic recessive epidermolysis bullosa are reported, and the relevant literature is reviewed. The study deals with the clinical aspects of these cases (buccal and dental lesions, digestive symptoms, effects on nutritional status; table I), as well as with their biochemical (table II), radiological and endoscopic aspects (table III, fig. 1 and 2). All patients presented with bucco-dental lesions, including two cases of congenital abnormalities: one with malposition and dysgenesis of the teeth, the other with dysplasia of the enamel in a patient whose dystrophic skin disease was proven by electron microscopic study. The oesophagus was involved in six cases, with tight concentric stenosis (2 cases), retrocricoidal stenosis (1 case) and oesophagitis (2 cases). No gastro-duodenal or intestinal lesions were detected. A case of constipation was related to anal involvement. The patients' nutritional status was investigated clinically and biochemically. A search for intestinal malabsorption by means of specific tests was conducted in 2 patients and proved negative. A study of the literature provided data on the nature and specificity of dental lesions. The morphological features, complications and physiopathology of oesophageal stenoses are described The existence of gastrointestinal lesions is discussed. Nutritional repercussions are presented and their causes are discussed. Attention is paid to the medical and surgical treatments of these lesions.

[Autoimmune polyendocrinopathy and chronic mucocutaneous candidiasis]. / Polyendocrinopathie auto-immune et candidose mucocutanée chronique.

The authors report the case of a child who, at the age of 18 months showed signs of hypoparathyroidism together with gastrointestinal, then buccal, then ungual candidiasis. Acute adrenal failure occurred when he was 5 1/2 years' old. At the age of 10, the patient developed alopecia areata and interstitial keratitis. Immunological investigations yielded normal results, except that serum was weakly positive for anti-adrenal antibodies at 1/10th. The mucosal and ungual candidiasis infection was cured by ketoconazole, and the various endocrine abnormalities were corrected with the appropriate replacement therapies. This case prompted the authors to review the candidiasis/"polyglandular autoimmune disease" association. Whitaker's triad consists of candidiasis, hypoparathyroidism and chronic renal failure, 2 or these 3 elements being sufficient to make the diagnosis. Numerous other associations have been described; they are presented here in table form in descending order of frequency, with candidiasis/hypoparathyroidism coming on top of the list (70 p. 100). The fairly constant chronological order in which these different pathologies appear is one of the peculiarities of the syndrome: candidiasis often precedes hypoparathyroidism and adrenal insufficiency. Alopecia areata does not seem to be frequent, but its true incidence is difficult to quantify since lesions of the scalp and/or skin appendages are poorly documented in the literature. Alopecia and keratopathy seem to be of autoimmune origin. Mucocutaneous candidiasis too is specific, the mucosae and nails being constantly involved. This type of candidiasis does not exist in other forms of hypoparathyroidism. Chronic mucocutaneous candidiasis is found in many different diseases and is due to immunodeficiency against Candida spp.(ABSTRACT TRUNCATED AT 250 WORDS)

[Hereditary cholestasis, an unusual etiology of pruritus in the infant]. / Cholestase anictérique, une étiologie rare de prurit du nourrisson.

INTRODUCTION: Pruritus in the infant is predominantly related to common dermatosis. General causes remain exceptional. We report two cases of pruritus in infants revealing anicteric cholestasis. OBSERVATIONS: Case no 1. A thirteen month-old boy had exhibited pruritus since the age of 2 months. The clinical examination was non-specific. Biological explorations revealed an isolated and moderate rise in total bilary acids. The search for mutations in the genes of a familial fibrogenic cholestasis was negative. The diagnosis retained was hypercholanemia. Treatment combined ursodesoxycholic acid and rifampicine, which controlled the pruritus and normalized the bilary acid levels. Case no 2. A twenty-one month-old boy had exhibited pruritus since the age of 2 months and delayed growth. The clinical examination was unspecific. The biological explorations revealed cholestasis with normal delta GT, moderate cytolysis and liposoluble vitamin deficiency. The hepatic biopsy was normal. The diagnosis retained was familial fibrogenic cholestasis. Treatment combined ursodesoxycholic acid and rifampicine, which controlled the pruritus and normalized the hepatic parameters. DISCUSSION: Non-dermatological isolated pruritus is rare in infants. These two observations illustrate two abnormalities in bilary acid transport. Hypercholanemia is a faulty canalization of bilary acids by the hepatocyte. Familial fibrogenic cholestasis is a default in the elimination of these bilary acids. Such pathologies must be evoked because specific treatment will treat the symptoms and avoid the evolution of familial fibrogenic cholestasis towards cirrhosis.

[Melorheostosis associated with arteriovenous malformation of the ear]. / Mélorhéostose associée à une malformation artério-veineuse de l'oreille.

BACKGROUND: Melorheostosis is a rare bone dystrophy that may be associated with various vascular malformations. We report a case of arteriovenous fistulae of the ear associated with melorheostosis limited to the same side of the body. CASE REPORT: A 13 year-old boy presented a congenital port-wine nevus of the right side of the head complicated by an arteriovenous fistulae and angiomatous nodules of the ear. He was treated by laser, surgery of the nodules, arterial embolisations and sclerotherapy. In 1999, he had a benign trauma of the right hand. The X-ray showed hyperostosis resembling wax flowing down a candle reaching the carpus and some of the metacarpals and the phalanges of the right hand, typical of melorheostosis. The complete radiographic check-up showed the same characteristic appearance on the right side of the skull and the long bones of the right upper limb. Except a deformation of the right fingers, there were no others symptoms. DISCUSSION: Melorheostosis is a rare, sporadic and benign bone dysplasia that may be localized to a single limb or disseminated. The diagnosis is usually made in late childhood. Pain, stiffness, deformation of a limb are the main clinical manifestations. The skin may be erythematous and sclerotic. The radiographic appearance is characteristic with hyperostosis on one side of the bone resembling wax flowing down a candle. A vascular abnormality is present in 17 p. 100 of cases (hemangiomas, aneurysms, renal artery stenosis.). In these cases, melorheostosis is usually limited to the same side of the vascular lesion. We report the first case of arteriovenous fistulae of the ear associated with melorheostosis, on the same side of the body. The physiopathology of melorheostosis is still unknown but the association with a homolateral vascular abnormality suggests a localized defect in embryogenesis of the vascular and skeletal systems.

[Facial cellulite associated with mandibular osteomyelitis in an infant]. / Cellulite faciale révélatrice d'une ostéomyélite mandibulaire chez un nourrisson.

INTRODUCTION: The discovery of a jugular tumefaction in an infant evokes several diseases. We report the case of a 4-month-old infant whose jugular cellulite revealed mandibular osteomyelitis. CASE REPORT: A 4-month-old boy was referred for hard, hot tumefaction of the right cheek and multiple cervical adenopathies. The suggested diagnosis was cellulite of cutaneous origin. He presented 21 900/mm(3) hyperleukocytosis associated with an inflammatory biological syndrome. Standard x-ray of the facial mass was normal. Sonography of the face showed thickening of the soft subcutaneous tissues and retro and sub-mandibular adenopathies with abcedation. Antibiotherapy with amoxicillin and clavulanic acid led to rapid improvement. Three days after withdrawal of the antibiotherapy, the tumefaction recurred without fever. A facial scan eliminated cystic lymphangioma and showed osteolysis of the external plateau of the ascending branch of the mandible with periosteal appositions. Histological examination of a surgical bone biopsy showed infectious osteitis and culture revealed hemolytic beta streptococci. Six weeks of antibiotherapy (initially with amoxicillin and gentamycin, then amoxicillin in monotherapy) led to the regression of all cutaneous signs. COMMENTS: When confronted with a tumefaction in this area, malignant or benign tumoral causes such as cystic lymphangioma must be eliminated. Infectious causes (abscess, parotid inflammation and osteomyelitis) must be evoked and distinguished from infantile cortical hyperostosis (Caffey-Silverman's syndrome). Standard radiological imaging, scan or scintigraphy are useful diagnostic tools. If osteolysis is discovered, a biopsy must be taken for anatomopathological and biological examination.

[Facial hemangioma associated with arterial anomalies, coarctation of the aorta, and eye abnormalities: PHACES syndrome]. / Hémangiome facial associé à des anomalies artérielles et oculaires et à une coarctation de l'aorte : syndrome PHACES.

BACKGROUND: Hemangiomas are frequent in childhood. Their association with dysmorphic anomalies is rare. Recently, the acronym "PHACES syndrome" was proposed to emphasize the association of Posterior fossa malformations, Hemangiomas, Arterial anomalies, Coarctation of the aorta and cardiac defects, Eye abnormalities, and Sternal malformations. CASE REPORT: A female child, 3 months old, had a large facial hemangioma. The physical examination was normal otherwise. A choroidal hemangioma and a papillary abnormality, causing amblyopia, were detected. The brain magnetic resonance imaging was normal. A subglottic hemangioma was found at endoscopy. At the age of 16 months, physical examination disclosed a heart murmur and coarctation of the aorta was detected. Moreover, the cardiac angiography showed diffuse arterial lesions. Strict surveillance was decided as there were no manifestations. DISCUSSION: Different abnormalities have been described to be associated with large facial hemangiomas. Frieden has grouped these abnormalities under the acronym PHACES. She described 43 hemangiomas and found 74 p. 100 Dandy Walker malformations and other posterior fossa malformations, 41 p. 100 arterial anomalies, 26 p. 100 cardiac or aortic malformations, 23 p. 100 ophthalmologic abnormalities. There is a high risk for the hemangiomas to develop in an airway localization. The prevalence of facial hemangiomas associated with other malformations is, to our knowledge, not known. In our department, 56 children were treated with corticosteroid therapy for severe facial hemangioma. 11 p. 100 had a cerebral abnormality. There were no cases with cardiac malformation or dysmorphism. PHACES syndrome is very rare but easy to remember. Thus in patients presenting a large facial hemangioma, it is important to conduct an attentive neurological examination completed by brain imaging and an extensive cardiovascular exploration. Special attention should be given to the ophthalmologic and sternal examinations as well as the search for hemangiomas in an airway localization.

[Allogeneic bone marrow transplantation in congenital erythropoietic porphyria. Gunther's disease]. / Allogreffe de moelle osseuse dans la porphyrie érythropoiétique congénitale. Maladie de Günther.

INTRODUCTION: The congenital erythropoietic porphyria (Günther's disease) (CEP) is a rare autosomal recessively metabolic disease due to the deficit of uroporphyrinogen III cosynthetase, fourth enzyme of the porphyrin-heme biosynthesis. This disease is characterized by severe cutaneous photosensitivity with profound skin lesions, hemolytic anemia and excess of uroporphyrin I excretion. The vital prognosis is very bad and until now, no treatment seems to be efficient. Bone marrow transplantation seems to be able to correct the enzymatic deficit that causes the disease because it is located in the bone marrow. OBSERVATION: We report the case of a four and a half year old girl who received an allogeneic bone marrow transplantation (BMT) at the age of two. Despite an encouraging result, the first transplantation failed. A second allogeneic transplantation was attempted eight months later with the same HLA identical heterozygous donor and bone marrow engrafment succeeded. Twenty one months after the second bone marrow transplantation, clinical and biological results are still excellent. DISCUSSION: No classical treatment of CEP really proved its efficiency and no one was curative. CEP resulting from an homozygous deficiency in uroporphyrinogen III cosynthetase, enzyme that takes part in the porphyrin-heme biosynthesis which is principally located in the erythropoietic system of the bone marrow, substitution of this defective lineage by BMT was a very attractive treatment to correct this anomaly. The first bone marrow transplantation attempted on an affected child in 1990 in Manchester failed because the patient died of infections complications. After the failure of the first transplantation, our little patient is now healed twenty one months after the second BMT and biochemical anomalies are corrected. If a long follow up is necessary to appreciate the long-term efficiency of this treatment, allogenic bone marrow transplantation seems to cure Günther's disease and must be proposed as the treatment of this affection.

[Scleroderma in children: a retrospective study of 70 cases]. / Sclérodermies de l'enfant: étude rétrospective de 70 cas.

BACKGROUND: Scleroderma is uncommon in childhood. The aim of our study was to analyze the frequency of different clinical forms, their prognostic significance, biological features, and co-morbidities and to assess the pertinence of therapeutic options. PATIENTS AND METHODS: The files of 70 children with primary scleroderma seen from 1980 to 1997 were retrospectively reviewed. RESULTS: Localized scleroderma was observed in 56 children and diffuse lesions in 14. Localized scleroderma (44 girls, 12 boys) began early at a mean age of 7 years 2 months. The lesions presented as isolated bands (39 p. 100), associated with morphea (36 p. 100), or multiple morphea (5 p. 100). Mean duration of the clinical course was longer in cases with more and deeper lesions. Eosinophilia was observed at onset in 38 p. 100 of the cases and antinuclear antibodies were found in 28 p. 100. Local corticosteroid therapy (level I or II) appeared to be useful in the superficial and active lesions (morphea) but did not halt progression to deep scleroderma. General corticosteroid therapy (1 mg/kg/24 h) did not prevent the development of sequelae in cases with bands (16/16). Diffuse scleroderma corresponded to systemic scleroderma (6 cases), dual morbidity (dermatomyositis, mixed connective tissue disease) (6 cases), or scleroderma after eosinophil fasciitis (2 cases). Age at onset was around 9 years with female predominance. A particular gloves and socks form was observed and cardiac involvement was common, but there was no case of renal involvement. The therapeutic problems were similar to those in adults. DISCUSSION: Our findings emphasize that scleroderma occurs readily in childhood, unlike what has been reported 10 years ago. Prognosis depends on functional impairment resulting from major sequelae particularly important in localized forms and the life-threatening situations occurring in systemic forms.

[Febrile eruptions in systemic diseases in children]. / Eruptions fébriles des maladies systémiques de l'enfant.

During systemic diseases, various cutaneous lesions can arise. When the diagnosis of the disease is known, it is quite easy to attribute the cutaneous symptoms to this disease. But, when confronted to a child with a rash and fever infectious disease has to be excluded first. If the antiinfectious treatment is not effective, a systemic disease can be suspected. Acute systemic disease may present as malaise, fever and cutaneous lesions, without specific biological abnormalities. The cutaneous symptoms can then be precious in reaching the correct diagnosis.

[Management of atopic dermatitis]. / Prise en charge de la dermatite atopique.

Management of atopic dermatitis should be based on cooperation among the physician, the child and the parents. There is no "radical" treatment that can eradicate the signs of this chronic affliction, which most often regresses during the first years of life. The aim of treatment is thus to combat infectious factors and to treat flares. In most cases, simple, daily and careful attention, using anti-infectious treatment, anti-inflammatory treatment by local corticosteroid application, and palliating skin dryness will assure the child of normal quality of life.