Histiocytosis X revealed by diabetes insipidus and skin lesions.

Langerhans cell histiocytosis is part of a larger group of syndromes described as histiocytoses. The disease may involve single or multiple systems including skin and nervous system. Here we report an adult case where Langerhans cell histiocytosis presented with diabetes insipidus and cutaneous ulcers.

Pseudotumoral cutaneous aspergillosis in chronic granulomatous disease, report of a pediatric case.

Invasive aspergillosis is a life-threatening condition in patients with chronic granulomatous disease (CGD). Skin invasion by Aspergillus occurs most commonly by contiguity to a neighboring cavity. We describe an unusual case of invasive cutaneous aspergillosis presented as a large burgeoning tumor in a 4-year-old girl with CGD who underwent surgical treatment for bifocal osteomyelitis of the left leg. The skin invasion occurred 4 months after a "successful" treatment of invasive pulmonary aspergillosis. Atypical presentation and diagnostic difficulties are discussed. Invasive cutaneous aspergillosis may be polymorphic. The diagnosis should be considered early in the etiological investigation of any suspicious skin lesions in CGD even in uncommon aspects such as burgeoning tumors.

Oral HPV infection and MHC class II deficiency (A study of two cases with atypical outcome).

BACKGROUND: Major histocompatibility complex class II deficiency, also referred to as bare lymphocyte syndrome is a rare primary Immunodeficiency disorder characterized by a profondly deficient human leukocyte antigen class II expression and a lack of cellular and humoral immune responses to foreign antigens. Clinical manifestations include extreme susceptibility to viral, bacterial, and fungal infections. The infections begin in the first year of life and involve usually the respiratory system and the gastrointestinal tract. Severe malabsorption with failure to thrive ensues, often leading to death in early childhood. Bone marrow transplantation is the curative treatment. CASE REPORTS: Here we report two cases with a late outcome MHC class II deficiency. They had a long term history of recurrent bronchopulmonary and gastrointestinal infections. Bone marrow transplantation could not be performed because no compatible donor had been identified. At the age of 12 years, they developed oral papillomatous lesions related to HPV (human papillomavirus). The diagnosis of HPV infection was done by histological examination. HPV typing performed on the tissue obtained at biopsy showed HPV type 6. The lesions were partially removed after two months of laser treatment. CONCLUSIONS: Viral infections are common in patients with MHC class II and remain the main cause of death. Besides warts caused by HPV infection do not exhibit a propensity for malignant transformation; they can cause great psychosocial morbidity.

Cutaneous adverse drug reactions in children. A series of 90 cases.

BACKGROUND: Cutaneous adverse drug reactions (CADR) are frequent in children. They have different clinical presentations and may be caused by several drugs. AIM: To evaluate the epidemioclinical features of cutaneous adverse drug reactions (CADR) and the different causative drugs in a Tunisian paediatric series. METHODS: We have retrospectively included 90 children (under 16 years old) with a well documented cutaneous drug reaction, seen in the Department of Dermatology of Charles Nicolle hospital of Tunis over 18 years (1991-2008). Age, gender, duration of skin disorders, type of cutaneous lesions, incriminated drugs, delay between drug consumption and eruption, validation by the national pharmacovigilance centre, treatment and outcome were recorded. RESULTS: Our patients were 6.9 year-aged (sex-ratio M/F 1.19). They had maculopapular eruption (MPE) (57.7%), acute urticaria (16.6%), fixed drug eruption (14.4%), erythema multiform (2.2%), photosensitization (1.1%) or severe cutaneous drug reactions (10%).Incriminated drugs were: Antibiotics (55.5%), non-steroidal antiinflammatory drugs (18.8%), antiepileptics (11.1%), and analgesics (5.5%). Betalactamins were the most commonly incriminated antibiotics (32 out of 50 patients; 64%). Barbiturates were the most commonly incriminated anti-epileptics (7/90 cases, 7.7%). Favourable outcome was noted in all patients, even those with severe drug reactions. CONCLUSION: MPE to antibiotics were the most common kinds of CADR in children. Drug responsibility should be based on solid criteria given the frequency of MPE of infectious origin and the frequent prescription of antibiotics in paediatric population.

Pigmented lesion in the inguinal region.

Pigmented Bowen disease (PBD) is a rare tumor characterized by increased melanin pigment in the epidermis or papillary dermis in addition to the typical findings of Bowen disease. We report the case of a 60-year-old woman who presented with a 6-month history of a gradually enlarging solitary dark brown plaque in her right inguinal region. Histopathology showed hyperkeratosis with parakeratosis, acanthosis, disorganization of epidermal architecture, atypical keratinocytes, and increased melanin pigment of the papillary dermis. Considering the clinical and the histological evidence, a diagnosis of PBD was established. Complete resection confirmed the diagnosis. Pigmented Bowen disease is an unusual form of squamous carcinoma in situ. Other tumors in the differential diagnosis include pigmented basal cell carcinoma and superficial spreading melanoma.

A delayed diagnosis of lepromatous leprosy: pitfalls and clues to early recognition.

PURPOSE: To remind special attention to atypical symptoms of Hansen's disease, we report a case of an atypical case due to a delayed diagnosis. BACKGROUND: Clinical features of leprosy are well known, cutaneous lesions and involvement of the peripheral nerves being the cardinal clinical signs. Among these presentations, systemic involvement, including mucous membranes of the upper respiratory tract and eyes, is rarely reported even if it is still commonly seen in endemic areas, in particular lepromatous leprosy. CASE REPORT: We describe here a new case of Hansen's disease in a 51-year-old Tunisian woman with an atypical presentation and a delayed diagnosis. The early symptoms of the disease were different from the main clinical signs of Hansen's disease since they involved the upper respiratory tract and the eyes. A nasal smear was positive for acid-fast bacilli, thus confirming the diagnosis of bacilliferous leprosy. Histological findings suggested the diagnosis of leprosy and were somewhat more characteristic of the borderline lepromatous type. CONCLUSION: Diagnosis of Hansen's disease in patients with neither apparent skin lesions nor neurological signs is still problematic. Clinicians should not only pay attention to the more obvious signs in their own fields of expertise but should be aware of the possible systemic involvement of leprosy.

Transient symptomatic zinc deficiency in a breast-fed infant: relevance of a genetic study.

OBJECTIVE: We present a case of acrodermatitis enteropathica in a full-term, breast-fed, 7-mo-old infant born from consanguineous parents with a family history of acrodermatitis enteropathica. METHODS: The patient presented with periorificial and symmetric acral lesions, which prompted us to review the clinical features of acrodermatitis enteropathica and its pathogenesis. Laboratory investigations showed low zinc levels in the infant's and mother's sera and in the mothers' milk. RESULTS: A diagnosis of acrodermatitis enteropathica was made. A mutation screening of the SLC39A4 gene in the patient and his mother showed heterozygosity for the deletion c.1223_1227delCCGGG. The diagnosis of transient symptomatic zinc deficiency was then established. CONCLUSION: Transient symptomatic zinc deficiency is generally reported in premature infants but should also be considered in full-term, breast-fed infants, as in the present case.

Erythema elevatum diutinum: an "idiopathic" case.

Erythema elevatum diutinum (EED) is a rare condition with an unclear pathogenesis. Initially classified within neutrophilic dermatoses, it is now considered as a leukocytoclastic vasculitis accordingly to its histopathologic pattern. Several clinical presentations as well as many associated diseases are reported in the literature. We report a new case of EED in a 58-year-old man who presented with a three-month history of plaques and nodules on the extensor surfaces of hands, elbows, knees, ankles, forearms, and buttocks. Histology showed a leucocytoclastic vasculitis, suggestive of the diagnosis of EED. Screening for an associated pathology, namely a paraproteinemia or a solid cancer, was negative. Treatment with dapsone leads to amelioration within few weeks.

[Kindler syndrome: clinical and ultra-structural particularities, a propos of three cases]. / Le syndrome de Kindler, particularités cliniques et ultrastucturales à travers trois nouvelles observations familiales.

INTRODUCTION: Kindler's syndrome is a rare type of genetic skin condition belonging to the class of bullous poikilodermia. We report three new sibling cases of this rare syndrome. CASES REPORTS: The condition was seen in three sisters aged 12, 16 and 20 years, born of a first-degree consanguineous marriage with no family history of Kindler's syndrome. The three patients presented spontaneously regressive bullous eruptions, poikilodermia of gradual onset, major cutaneous atrophy on the back of the hands and the feet, photosensitivity and gingival hypertrophy. Electron microscopy examination of poikilodermic skin showed normal anchoring filaments and intraepidermal cleavage. DISCUSSION: Diagnosis of Kindler's syndrome is based upon clinical evidence. Kidler's syndrome is a well defined clinical entity. Ultra-structural studies show intraepidermal, junctional, and dermal cleavage. This syndrome must be differentiated from congenital epidermolysis bullosa, Weary's syndrome, and other bullous hereditary poikilodermas.

Acrodermatitis enteropathica: a review of 29 Tunisian cases.

INTRODUCTION: Acrodermatitis enteropathica is a rare autosomal recessive disease due to an abnormality in a zinc transporting molecule. METHODS: We conducted a retrospective monocentric study on 29 Tunisian cases of Acrodermatitis enteropathica (AE) treated in our Department of Dermatology in Tunisia, between January 1981 and June 2008. RESULTS: The age of onset of disorders was between 15 d and 12 months (mean 6.86 ± 3.25 months). The delay of consultation ranged between 15 d and 8 months (mean of 2.8 ± 2.17 months) after onset. Onset of gastrointestinal and psychiatric signs depended significantly on consulting times. Plasma zinc levels ranged between 14 and 88 lg/100 ml (mean 44.86 ± 18.4 lg/100 ml). There was not a significant relation between zincemia and clinical features. Genetic analyses in 13 of our patients showed three different mutations in the SLC39A4 gene: c.1223_1227del (p.Trp411ArgfsX7) in exon 7,c.143T>G (p.Leu48X) in exon 1 and c.1784T>C (p.Gly595Val) in exon 11. No significant genotype-phenotype correlations could be established. CONCLUSION: Acrodermatitis enteropathica is a rare disease which diagnosis is easy. Its biological confirmation is made on a simple dosage of zincemia. However, the diagnosis is not always suggested, and is unfortunately made late. At present, there is a molecular test to detect SLC39A4 mutations.

Generalized peeling skin syndrome: Case report and review of the literature.

Peeling skin syndrome (PSS) is a rare form of ichthyosis with a probable autosomal recessive inheritance that exhibits superficial, painless, continual, or seasonal cutaneous exfoliation. The syndrome generally appears at birth or in infancy. We report a case of generalized PSS and provide a literature review. A 34-year-old woman reported a lifelong history of generalized and painless peeling of the skin that worsened in summer. Her parents were third degree cousins. Her twin sister and her two cousins presented with the same condition. Physical examination showed widespread superficial sheets of variable size that could be easily removed without bleeding or pain. No underlying erythema was noted. Otherwise, the patient was in good health. Histological findings showed an epidermal cleavage within the stratum corneum. The generalized form of PSS is classified into 3 types, A, B, and C, according to the classification system of Traupe and Mevorah. We have tried to classify the cases of generalized PSS already reported in the literature into one of these three types. Thirteen reported cases probably presented PSS-type A. Sixteen patients are best described as PSS-type B. Two patients exhibit PSS-type C. Fifteen reported patients had an acral form of peeling skin syndrome. The classification of the eleven remaining patients was difficult to determine. Our patient presented clinical and histological features of generalized PSS-type A.

[Orf of the hand]. / Orf de la main.

INTRODUCTION: The orf is a zoonotic infection which can be transmitted to humans. OBJECTIVE: The aim of our report is to describe this often misdiagnosed viral infection in a man with an orf of the hand appearing after the feast of the sacrifice. CASE REPORT: A 40-year-old man with no past medical history, presented with a nodular lesion on the fifth right finger evolving for 3 weeks which had appeared 2 weeks after the feast of the sacrifice. Histology showed a vacuolar degeneration of keratinocytes probably of viral origin. Both histological aspect and the contact with sheep, led to the diagnosis of hand orf. Three weeks later the lesion had spontaneously resolved. CONCLUSION: Orf is an infectious mucocutaneous disease due to a parapoxvirus. It is more frequent in professionally exposed persons (veterinary, butchers...). But, in our country, the frequency of the orf increases after the feast of the sacrifice and remains undiagnosed because patients do not consult. The diagnosis may be confirmed by electron microscopy, conventional histopathology or by isolation of the virus by PCR. Information on the benign character of the disease and reassurance of the infected patient are very important because lesion usually resolves spontaneously.

[Localized scleroderma: a retrospective study about 92 cases]. / Les sclérodermies localisées: étude rétrospective de 92 cas.

BACKGROUND: Sclerodermas are rare affections which can be located or generalized. Localized form is the most frequent. AIM: The purpose of this study was to describe epidemiologic, clinics, biological, immunological, therapeutic, evolutionary characteristics of the localized scleroderma through a personal series and the data of the literature. METHOD: We have performed a retrospective study on all patients followed in the department of dermatology of the Hospital Charles Nicole during 14 years period. RESULTS: Our study was about 92 cases of localized scleroderma (73 were females and 19 males). The mean age was 35 years (between 2 and 72 years). The majority of localised sclerodermas (66.2% of the cases) appeared before 40 years with a maximum of frequency between 10 and 30 years (41.6%). Only 11.9% of the cases were observed before 10 years. They were 51 cases (55%) of morphea, 35 cases (38%) of scleroderma in bands including 32 linear scleroderma and 3 scleroderma en coup de sabre, 5 cases (5.5%) of generalized morphea and 1 case (0.15%) of deep morphea. Average therapeutic was specified among 63 patients (87%), and the evolution could be appreciated among 45 patients. CONCLUSION: The epidemiologic data observed in our series are comparable with those reported in the literature. Therapeutic difficulties and risks of functional after-effects, particular in scleroderma in bands, remain the principal concern for all the authors.

[Bullosis diabeticorum: report of ten cases]. / La bullose des diabétiques: a propos de dix cas.

BACKGROUND: Bullosis diabeticorum is a rare characteristic complication of diabetes mellitus; it affects 0.5% of diabetics. Bullosis diabeticorum is a manifestation of complicate and longstanding diabetes mellitus. THE AIM: of our study was to describe particularities of diabetes in patients suffering of this disease. METHODS: We have led a retrospective study covering a 5 year-period (January 2001 - December 2007) in the dermatology department of the Charles Nicolle's hospital in Tunisia. We selected for this study all cases of bullosis diabeticorum. RESULTS: During the studied period, 10 cases have been collected. They were in all cases about complicate and long-standing diabetes. Bullosis diabeticorum has a favourable outcome in all cases with symptomatic treatment. CONCLUSION: The different cases of bullosis diabeticorum reported in our series were associated to complicate diabetes mellitus what lets suggest that vascular deteriorations led to cutaneous fragility responsible for the skin cleavage.

[What is new in the treatment of vitiligo]. / Actualites dans le traitement du vitiligo.

BACKGROUND: Vitiligo is a frequent hypomelanosis that affects 1% of the world population, and 0,95% of the tunisian population. OBJECTIVE: The objective of our study is to describe through a recent review of the literature, the different therapeutic modalities, now used in vitiligo. We have used a clinical approch to guid therapeutic indications. METHODS: We have performed a review of the articles, dealing with the treatment of vitiligo and published during the 10 previous years. We have used a Medline research with these key-words: "vitiligo and treatment". Randomized studies were privileged and 29 articles were analysed. We have initially presented all validated therapeutic means now used in vitiligo. We have then proposed, according to this recent review of the literature, clinical indications according to vitiligo type, extension of lesions and if vitiligo involves adults or children. RESULTS: We dispose of multiple chemical, physical and surgical treatments of vitiligo. Vitiligo with partial melanocyte defect can be treated especially by the different modalities of phototherapy (PUVAtherapy, PUVASOL, UVB therapy TL01, Laser excimer). Surgical treatments were also described, with there principal indications. Ethiopathgenic treatments (local steroids, Tacrolimus, Calcipotriol, Vitix*) were especially indicated in vitiligo with complete epidermic and follicular achromy. Finally, different therapeutic associations were reported in the litterature, showing synergic effect of some treatments. CONCLUSION: Phototherapy remains the best treatment of vitiligo type I. In vitiligo type II and III, ethiopathogenic treatments may be efficient, alone or associated with phototherapy.

[Hereditary ichthyosis in Tunisia: epidemiological study of 60 cases]. / Ichtyoses herediatires en Tunisie: etude epidemiologique a propos de 60 cas.

BACKGROUND: Ichthyosis are a group of inherited keratinizing disorders. The cutaneous abnormalities may be isolated or associated with extra-cutaneous symptoms. AIM: To report the epidemiological and clinical profiles of patients with these genodermatoses from a hospital tunisian study. METHODS: A retrospective study of all cases of ichthyosis referred during a period of 5 years to the department of dermatology of Charles Nicole's hospital of Tunis. RESULTS: Sixty cases of hereditary ichthyosis were seen. The sex-ratio was of 0.5. Parental consanguinity was noted in 36 patients (60%). Seventeen patients (25.7%) had a positive familial history of ichthyosis. The clinical form of ichthyosis was determined in 52 cases. The nonbullous ichthyosiform erythroderma was observed in 25 patients (41.6%). Sixty patients presented an ichthyosis vulgaris (26.6%). The other forms of ichthyosis were rarely observed : 4 cases of X-linked recessive ichthyosis, 2 cases of lamellar ichthyosis and 2 cases of bullous ichthyosiform erythroderma. Two patients were born with collodion-like membranes. Two cases presented a complex syndrome. CONCLUSION: The NBIE, commonly considered as a rare form of ichthyosis, was the most frequently form seen in our study (41.6%), probably because of the high frequency of consanguineous marriages in Tunisia. The IV represents the most frequent form reported in the literature and was observed in 25% of our patients. The classification of some ichthyosis associated with other extracutaneous abnormalities (found in 2 of our patients) remains difficult.