Nevoid basal cell carcinoma syndrome: our experience in a pediatric hospital.

Nevoid basal cell carcinoma (BCC) syndrome, or Gorlin syndrome, is a rare autosomal dominant disorder associated with mutations in the patched 1 gene, PTCH1. It is characterized by the presence of multiple BCCs in association with disorders affecting the bones, the skin, the eyes, and the nervous system. We describe 6 cases of nevoid BCC syndrome evaluated in our department. Palmoplantar pitting was observed in all 6 patients, multiple BCCs in 5 patients (83%), skeletal anomalies in 3 patients (50%), and odontogenic keratocysts in 1 patient (17%). We would like to stress the importance of early diagnosis and treatment in nevoid BCC syndrome and the need for continuous, long-term follow-up by a multidisciplinary team.

Perianal ulcers on a segmental hemangioma with minimal or arrested growth.

Hemangiomas with minimal or arrested growth are a type of infantile hemangioma in which the proliferative component characteristic of such lesions is not observed or accounts for less than 25% of the surface area of the hemangioma. For this reason, these lesions are frequently confused with capillary vascular malformations or may even go undetected. Awareness of these lesions is, however, important because they can become ulcerated, as occurs with typical infantile hemangiomas. A proper diagnosis is therefore important to enable administration of appropriate treatment. We present the case of a 3-month-old girl with slowly progressing perianal ulcers first detected when she was 20 days old. She had received many different therapies without any response. A pathology study of the ulcer showed a GLUT-1-positive infantile hemangioma. Response to treatment with propranolol 2mg/kg/d and local wound care was excellent.

[Paraneoplastic pemphigus or paraneoplastic autoimmune multiorgan syndrome. Report of 2 cases in children and a review of the literature]. / Pénfigo paraneoplásico/síndrome multiorgánico autoinmune paraneoplásico. Presentación de dos casos en la edad infantil. Revisión de la literatura.

Paraneoplastic pemphigus is an autoimmune blistering disease associated with an occult or previously diagnosed tumor. Its clinical, histological, and immunological features have been clearly defined. It is characterized by the presence of polymorphic skin lesions and by erosions of the oral and genital mucosas that are refractory to conventional treatments. The histology can be variable and includes acantholysis or lichenoid dermatitis. Circulating autoantibodies are a constant feature and confirm the diagnosis. We describe 2 girls with paraneoplastic pemphigus associated with Hodgkin lymphoma in one and Castelman disease in the other. Both children had oral and genital lesions that did not respond to conventional treatments. Biopsy revealed acantholysis in one and a lichenoid reaction in the other, and immunoassays confirmed the diagnosis. Chemotherapeutic treatment of the underlying disease was performed in both cases, together with high-dose corticosteroids for the skin and mucosal lesions. Both patients died due to respiratory failure. We suggest that paraneoplastic pemphigus, although rare in childhood and adolescence, should be included in the differential diagnosis of periorificial erosive dermatitis; this may assist in the detection of an occult neoplasm.

[Cutaneous manifestations of McCune-Albright syndrome: report of a case (author's transl)]. / Signes dermatologiques du syndrome de McCune-Albright. A propos d'un cas.

An 11-year-old boy with fibrous dysplasia of bone of the McCune-Albright syndrome type led to a search of the literature for reports of cutaneous signs other than hyperpigmented macules. We have found descriptions of patchy alopecia, verrucous nevi, soft tissue tumours and other cutaneous abnormalities associated with the McCune-Albright syndrome. Our patient presented in addition pili torti, dermal cysts and a pre-auricular appendix which are all signs not previously described in this syndrome. Our observation is in keeping with the hypothesis that there is a congenital ectodermal and mesodermal mal development to account for this polydysplasia.

[Does linear psoriasis exist? (author's transl)]. / Le psoriasis linéaire existe-t-il?

A child had both a congenital nevus unius lateris and a linear psoriasis of recent onset which first appeared localized to the nevus, and later became generalized. Histology of the psoriatic lesion overlying the nevus revealed the typical features of psoriasis and epidermolytic hyperkeratosis. Psoriasis and nevus have both disappeared with Ro 10.9359 therapy. Five similar cases of psoriasis overlying an epidermal nevus have been found in the literature. The epidermal nevus is a fertile site for the development of psoriatic lesions in a predisposed person. It is an example of the Köbner phenomenon. A wider definition of this phenomenon is suggested. The features of linear psoriasis are studied and we now believe that true linear psoriasis is not a distinct clinical entity and that previously reported cases correspond in fact to an inflammatory linear verrucous epidermal nevus (ILVEN).

[Transient eosinophilic nodulomatosis (author's transl)]. / Nodulomatose éosinophilique transitoire.

The case report describes a boy of six years presenting with asymptomatic nodules, asymmetrically distributed over the whole body. The lesions came in crops. Each lesion evolved over approximately 3 weeks and they healed without sequelae. The only other clinical feature was the presence of generalized lymphadenopathy. Histologically, the lesion was essentially dermal and composed by a diffuse cellular infiltrate predominantly made of eosinophils, mixed with a few normal histiocytes. The latter did not show any typical Langerhans granules. Various disorders featuring either nodules or eosinophilic infiltrates, or both, are discussed. Taking together all the clinical and histological data, it is reasonable to suggest that this disorder of transient eosinophilic nodulomatosis is not a well-defined entity and remains without a definite etiology.

[Mastocytosis evolving into anetoderma. Review of the literature (author's transl)]. / Les mastocytoses à évolution anétodermique (revue de la littérature).

The authors reviewed the literature of cases of mastocytosis with either anetoderma or pseudo-pelade. They studied the different substances in the secretions of mastocytes which could have an effect on collagen and elastic fibres. They supported the theory that there is a susceptible connective tissue. They stressed the underestimation of these associated features of mastocytosis.

[Angiokeratoma corporis diffusum (Fabry's disease). Update. Apropos of 2 cases]. / Angioqueratoma "corporis diffusum" (enfermedad de Fabry). Actualización. Apropós de dos casos.

Fabry's disease (angiokeratoma corporis diffusum) is an X-linked recessive inherited metabolic defect due to the lack of the enzyme alpha-galactosidase A. We reviewed the Argentine literature on the subject, the main features of the disease and its differential diagnosis. Two patients aged ten and fifteen are described showing the characteristic clinical picture of the disease since ages four and nine respectively. Skin and conjunctival ultrastructural studies showed intracytoplasmatic granules with a lamellar appearance in the endothelial cells, pericytes and fibroblasts. Plasma levels of alpha-galactosidase activity were sharply decreased in the two patients studied and partially decreased in their heterozygous mothers.

Haga su diagnóstico / Make your diagnosis

El diagnóstico es Pitiriasis liquenoide crónica

Keratosis pilaris atrophicans faciei (ulerythema ophryogenes): a cutaneous marker in the Noonan syndrome.

Five cases are reported of Noonan's syndrome, all of which presented keratosis pilaris atrophicans faciei (ulerythema ophryogenes). This dermatosis fulfils the criteria mentioned by Noonan & Ehmke (1963) as a pointer for the investigation of cardiac anomalies, especially of the pulmonary artery.