[Ichtyosiform erythroderma revealing a severe combined immunodeficiency]. / Érythrodermie ichtyosiforme révélant un déficit immunitaire combiné sévère.

BACKGROUND: Severe combined immunodeficiency (SCID) is a the most severe form of primary immunodeficiency and is highly heterogeneous. We report an atypical form of SCID revealed by exfoliative erythroderma. PATIENTS AND METHODS: A 3-month-old boy, born to consanguineous parents, was admitted to the dermatology department with exfoliative erythroderma associated with eczematous patches and alopecia of the scalp, eyelashes, and eyebrows, but with no lymphadenopathy or hepatosplenomegaly. He displayed chronic diarrhea and recurrent infection since birth. A complete blood count showed marked leukocytosis with eosinophilia and lymphocytosis. These clinical and biological findings improved partly with topical steroids. The patient no longer had erythroderma and showed regrowth of hair, eyelashes and eyebrows. The subsequent CBC showed less marked eosinophilia with mild lymphopenia and no leukocytosis. Immunoglobulin levels were undetectable. Primary immunodeficiency was discussed. Immunological investigations concluded on a diagnosis of T-B-NK+ SCID. Mutation analysis revealed a homozygous c.1338C>G (pCys446Trp) mutation in the RAG2 gene. Hematopoietic stem cell transplantation is planned in the near future. CONCLUSION: This case illustrates atypical T-B-NK+ SCID revealed by severe exfoliative erythroderma in a 3-month-old boy with RAG2 gene mutation. Neonatal erythroderma must be considered a warning sign of primary immunodeficiency requiring immediate immunological phenotyping as well as genetic testing for a definitive diagnosis.

[Thrombotic skin gangrene: A rare extra-intestinal manifestation of ulcerative colitis]. / La gangrène cutanée thrombotique : une manifestation extradigestive rare de la rectocolite hémorragique.

BACKGROUND: Thrombotic cutaneous gangrene is a rare extra-intestinal manifestation of ulcerative colitis with a severe prognosis. CASE REPORT: A 35-year-old woman with a 7-year history of ulcerative colitis presented with extensive ecchymotic lesions that began a few hours earlier. On examination, she was febrile with multiple necrotic lesions. Skin biopsy showed multiple microthrombi in the dermal vessels. A diagnosis of thrombotic cutaneous gangrene was established. The patient was treated with heparin and systemic corticosteroids. The majority of cutaneous lesions showed improvement after 1 month. Thrombophlebitis of the left lower limb occurred subsequently. CONCLUSION: Thrombotic cutaneous gangrene is attributed to microvascular thrombosis, which arises from the hypercoagulability observed in ulcerative colitis. Complete blood and coagulation tests must be performed and early anticoagulation with heparin must be considered in order to prevent the progression of cutaneous infarction.

[Bowel-associated dermatosis-arthritis syndrome during ulcerative colitis: A rare extra-intestinal sign of inflammatory bowel disease]. / Syndrome arthro-cutané lors d'une rectocolite ulcéro-hémorragique : une manifestation extra-intestinale rare des maladies inflammatoires de l'intestin.

INTRODUCTION: Bowel-associated dermatosis-arthritis syndrome (BADAS) is characterized by combined pustular skin eruption and arthralgia. It may be associated with inflammatory bowel disease or bowel bypass surgery. We report a case of BADAS in a patient with ulcerative colitis. CASE REPORT: A 39-year-old woman was being treated for a severe flare-up of ulcerative colitis present over the preceding 2 months and treated with prednisone, azathioprine and cyclosporine. She was also presenting a cutaneous eruption and arthralgia that had begun three days earlier. Dermatological examination revealed profuse vesicular and pustular lesions. Biopsy specimens showed mature neutrophilic infiltrate within the dermis. A diagnosis of BADAS was made and the same treatment was maintained. Systemic symptoms were resolved but the vesicular lesions were superseded by hypertrophic scars. DISCUSSION: Bowel-associated dermatosis-arthritis syndrome consists of a vesiculopustular eruption associated with arthralgia and/or arthritis and fever, as was the case in our patient. The histological picture is characterized by abundant neutrophilic infiltrate in the superficial dermis. The clinical and histological features and the course of BADAS allow this entity to be classified within the spectrum of neutrophilic dermatoses. Treatment chiefly involves systemic corticosteroids.

[Analysis of 18 Tunisian cases of mycetoma at the Sousse hospital (1974-2010)]. / Analyse d'une série tunisienne de 18 cas de mycétomes à l'hôpital de Sousse (1974-2010).

Mycetoma are inflammatory pseudotumors, due to infection by bacterial (Actinomycetoma) or fungal (Eumycetoma) agent. A retrospective study was conducted during 34 years. Our aim was to study epidemiologic, clinic, therapeutic and microbiologic characteristics. Eighteen patients were assessed. Sex-ratio H/F was 2. The mean age was 43.6 years. Principal localization was the feet. Our study was characterized by majority of actinomycetoma found in 15 cases (Actinomadura madurae in 14 cases and Nocardia sp. in one case). Eumycetoma were diagnosed in 3 cases (Madurella mycetomatis in two cases and Pseudallesheria in one case). All patients received medical treatment associated with surgical treatment in 11 cases.

Severe childhood lichen planus pemphigoides after hepatitis A vaccination.

Background: Lichen planus (LP) pemphigoides (LPP) is a very rare autoimmune bullous disorder, that is, exceptional in children. Case Report: We report a case of LP pemphigoides with severe cutaneous and mucosal involvement in an 8-year-old girl who consulted for multiple vesicular and bullous lesions associated with shiny erythematous-purple plaques. The eruption occurred 2 months after vaccination against hepatitis A virus. The diagnosis of LP pemphigoides was confirmed by histopathology and immunofluorescence examination. The patient received oral corticosteroid therapy with rapid improvement. Conclusion: To our knowledge, this is the first report of LPP following hepatitis A vaccination, among adults and children.

[Annular lipoatrophy of the ankles]. / Lipoatrophie annulaire des chevilles.

BACKGROUND: Annular lipoatrophy of the ankles (ALA) is an extremely rare form of localized lipoatrophy characterized by atrophy of subcutaneous fat. We report a case of annular atrophy of the ankles associated with a history of diabetes and Graves' disease. PATIENTS AND METHODS: A 22-year-old woman with a history of Graves' disease and diabetes consulted for annular lesions of ankles which had appeared three years earlier. She had suddenly developed erythematous annular plaques on the right ankle. One week later, the plaques had evolved towards progressive atrophic bands involving the lower third of the legs. The overlying skin was normal and muscle involvement was absent. Laboratory studies revealed an antinuclear antibody (ANA) titre of 1/640 while a skin biopsy specimen showed diffuse lobular lymphohistiocytic panniculitis rich in lymphocytes and lipophages foam cells without any evidence of vasculitis. A direct immunofluorescence microscopy study was negative. Lipoatrophy was still present after six months of chloroquine treatment (300mg per day). DISCUSSION: ALA is a rare and poorly understood condition. Based on the ten or so case reports in the literature, we attempted to define the clinical and histological profile of the disease as well as its course and its relationship with other forms of atrophic panniculitis. In particular, the onset of LAC in our patient presenting several autoimmune diseases underlines its close relationship to the condition described as "connective tissue panniculitis".

[Acute generalized exanthematous pustulosis following a spider bite: three cases from Tunisia]. / Pustulose exanthématique aiguë généralisée succédant à une morsure d'araignée : trois observations tunisiennes.

BACKGROUND: acute generalized exanthematous pustulosis (AGEP) is a severe eruption induced in most cases by medication; more rarely, it is associated with viral infection, food allergens or toxins. The literature contains only very rare reports of AGEP caused by a spider bite. We describe three cases of AGEP in Tunisian women following a spider bite. CASE REPORTS: three Tunisian women were hospitalized in the dermatology department during the summer months presenting acute febrile pustulosis and rash occurring after a spider bite. The diagnosis of AGEP was confirmed with certainty based on the EuroSCAR score. Two patients presented marked eosinophilia. The outcome was favourable in all cases after symptomatic treatment. DISCUSSION: the factors militating in favour of spider-bite origin in these three patients were: (1) the presence of skin lesions characteristic of a spider bite; (2) the chronology of events, with eruption occurring 24 to 48 hours after the bite; and (3) the exclusion of the common causes of AGEP and the presence of marked eosinophilia in two of the cases. CONCLUSION: Our cases and the few cases published in the literature indicate that spider bites may be added to the list of the possible causes of AGEP.

Lymphatic spread in an immunocompetent adult.

Cutaneous tuberculosis with lymphatic spread is rarely described. We report the case of a woman aged 38, immunocompetent, working in a fruit sorting center, who consulted us for ulceration of the left third finger that had persisted for four months, following a prick from a prickly pear. Physical examination revealed a nodular, erythematous, and ulcerative lesion of the left third finger, associated with inflammatory subcutaneous nodules arranged in a line along the ipsilateral upper extremity and an ipsilateral axillary lymph node. Laboratory tests and chest X-ray were normal. Pathological examination revealed granulomatous chronic inflammation without necrosis. PCR detected DNA from Mycobacterium tuberculosis. No extracutaneous tuberculosis locations were detected. A tuberculous chancre by direct inoculation was therefore diagnosed. The patient received quadruple therapy (rifampicin + isoniazid + pyrazinamide + ethambutol) for 2 months, followed by a combination therapy based on isoniazid and rifampicin for 6 months. Marked regression of the cutaneous lesions occurred after 1 month of first-line therapy. A tuberculous chancre is a rare form of cutaneous tuberculosis, with possible lymphatic spread, in immunocompromised patients but also in immunocompetent children and young adults.

Dyschromatosis universalis hereditaria: two cases.

Dyschromatosis universalis hereditaria is a rare genodermatosis reported initially and mainly in Japan. However, subsequent cases have been reported from other countries. We describe two Tunisian cases of dyschromatosis universalis hereditaria in a 3-year-old and a 3-month-old girl. They presented to our department with asymptomatic progressive mottled pigmentation over the trunk and limbs, which had been noted since birth and had become more noticeable with age. Palms and soles were also affected in the first case. The two patients did not have any systemic or other cutaneous illness. They were born to healthy, second-degree consanguineous parents (case 1) and non consanguineous parents (case 2), following an uneventful pregnancy. No family members had a similar appearance. Physical examination revealed numerous, generalized, hyperpigmented macules interspersed with spotty de-pigmented macules. Hair, nails, teeth, and mucosae were normal. Systemic examination did not reveal abnormalities. Histological exam revealed basal layer hypermelanosis with pigmentary incontinence in some areas. So based on those findings a clinical diagnosis of DUH was made and the patients were followed up in our department for periodic general evaluation of their skin. After a follow up of 12 months, the first child didn't develop other lesions, but palms and soles were also involved in the second case.

[Sweet's syndrome complicating isotretinoin therapy in acne]. / Aggravation à type de syndrome de Sweet d'une acné traitée par isotrétinoïne.

BACKGROUND: We report a case of juvenile acne aggravated in the form of Sweet's syndrome by isotretinoin treatment. The late onset of ulcerative-hemorrhagic rectocolitis in this patient raised doubts about a possible relationship between Sweet's syndrome, acne and inflammatory colitis. PATIENTS AND METHODS: A 19 year-old male patient with no disease history of note was treated for juvenile polymorphous acne resistant to standard topical acne treatment using isotretinoin (Roaccutane) at a dose of 0.5 mg/kg/d. After one week of treatment, the patient presented a fever of 38.5 degrees C, joint pain and congestive, erythematous-edematous, maculopapular plaques in ring-like layout subsequently becoming pustular and necrotic. These lesions occurred on the face, neck and pinna of the ear. Some nodules were also noted on the lower limbs. Biological tests and histology examination of a skin biopsy were evocative of Sweet's syndrome. The outcome was rapidly favorable following discontinuation of isotretinoin and institution of systemic corticosteroids (0.5 mg/kg/d). Two years later, ulcerative-hemorrhagic rectocolitis was diagnosed with episodes of bloody diarrhea. DISCUSSION: Treatment of acne with isotretinoin can occasionally induce inflammatory episodes of acne. To date there have been no reported cases of isotretinoin-induced Sweet's syndrome. The subsequent onset of ulcerative-hemorrhagic rectocolitis provides an indication of the complexity of the pathogenic mechanisms involved.

[Chronic vulvar lymphedema revealing Crohn disease in a teenage girl]. / Lymphœdème vulvaire chronique révélant une maladie de Crohn.

INTRODUCTION: Cutaneous Crohn disease is a rare cutaneous manifestation of Crohn disease in children. Herein is reported a case of persistent vulvar lymphedema revealing Crohn disease in a teenage girl. CASE REPORT: A 14-year-old girl presented with an 8-month history of persistent vulvar swelling associated with chronic macrocheilia. Dermatologic examination showed an inflammatory vulvar lymphedema, associated with perianal fissures and hypertrophic gingivitis. Vulvar skin biopsy revealed non-necrotizing granulomatous inflammation. Gastrointestinal endoscopy yielded no significant findings. The diagnosis of Crohn disease presenting as vulvar lymphedema was established. Oral metronidazole therapy resulted in partial improvement of cutaneous lesions beginning the 1st week. CONCLUSION: The originality of this case lies in the presentation of chronic macrocheilia with persistent vulvar lymphedema in a child, revealing Crohn disease without gastrointestinal involvement.

Chondroid syringoma of the arm: an unusual localization.

Chondroid syringoma (CS) is an uncommon, benign, sweat-gland tumor. The usual presentation is of an asymptomatic, slowly growing mass, typically located on the head and neck region. We present a case of a CS located in the right arm of a 43-year-old woman. This tumor developed slowly over 8 years. The diagnosis of CS was made by histopathological examination; it showed an abundant chondroid stroma intermingled with a fibro-adipoid tissue. There was no recurrence after total excision of the tumor with a 2-year followup. The unusual localization of chondroid syringoma made an accurate preoperative diagnosis difficult and diagnosis was achieved only by microscopy. Surgical tumor excision remains the best therapeutic option to avoid relapses of this tumor. Close followup is recommended because malignant transformation, although rare, is possible.