Conradi-Hünermann syndrome with unilateral distribution.

Conradi-Hünermann syndrome is a type of chondrodysplasia punctata characterized by skeletal, cutaneous, and ocular anomalies. Genetic heterogeneity and incomplete penetrance may explain the wide clinical spectrum. We report a 7-day-old girl, product of a preterm pregnancy and delivery, with ichthyosiform erythroderma on the right half of the body at birth, as well as patchy cutaneous involvement of the contralateral side. On physical examination, we observed an ipsilateral shortening of the leg and a lenticular opacity of the right eye. Histopathologic study showed parakeratotic hyperkeratosis with prominent follicular involvement and atrophy of the granular and spinous layers. The skin eruption disappeared during the first 2 months. At 2 months of age, radiologic examination revealed stippled calcifications in the ribs, vertebral, and paravertebral areas. The most important differential diagnosis was CHILD syndrome. We emphasize the importance of the histopathologic study in the differential diagnosis of both syndromes.

[A new case of congenital leukemia with leukemia cutis]. / Un nuevo caso de leucemia congénita con leucemia cutis.

Congenital leukaemia is a condition occurring very rarely. In a recent review in 1993, 175 cases are reported, 25-30% of them being well documented as leukaemia cutis. We reported a new case of congenital leukaemia diagnosed as an acute non lymphoblastic leukaemia M4 (FAB) and diagnosed at birth. It involves a newborn female at 42 weeks of gestational age. The most relevant clinical features were hepatomegaly and cutaneous petechial lesions along with a generalized distribution of nodules. From the blood peripheral count, leukocytosis is observed (177 x 10(9)/L) with 48% blasts of myeloid immunophenotype. The coagulation studies were consistent with a disseminated intravascular coagulation syndrome. A biopsy carried out on a cutaneous nodule, revealed diffuse dermoepidermic infiltration by immature cells of myeloid lineage, with cellularity and count similar to that of bone marrow and peripheral blood. The karyotype in the peripheral blood was normal. Infectious and immune causes were excluded as well as constitutional illnesses associated with unstable haematopoiesis. The family rejected treatment with chemotherapy and the baby died on day 53 of life due to progressive leukocytosis and concurrent infection. Our case, like 80% of the cases reported, is of myeloid origin and confirms the fatal evolution of untreated congenital leukaemia.

Tuberculous chancre in the partner of an intravenous drug abuser.

We report a 26-year-old housemaid whose partner was an intravenous drug abuser with undiagnosed pulmonary tuberculosis. The patient presented with a painless chin ulcer with an elevated irregular border and a firm, nontender submandibular adenopathy. The lesion had been present for 2 months and did not respond to antibiotic therapy. The tuberculin test was positive, and a biopsy and Löwenstein culture confirmed the diagnosis of cutaneous chancre. The patient was treated with rifampicin, isoniazid and pyrazinamide and, after 6 months of treatment, she developed scrofuloderma which had to be surgically removed. After 1 year of follow-up, the lesions had totally cleared.

[Anatomopathologic evaluation of the pathergic reaction in Andalusian patients with Behçet's disease]. / Valoración anatomopatológica de la reacción patérgica en andaluces con enfermedad de Behçet.

Pathergic reaction (PR) has been recently included in a system of diagnostic criteria for Behçet's disease (BD), justified for its high frequency in several countries like Turkey (58%). As in occidental countries it is much less common, we advise to evaluate its diagnostic usefulness in our country. An anatomopathological study of the PR in 23 patients with BD, and 14 healthy volunteers, was conducted. Punch samples were stained with hematoxylin-eosine and for immunofluorescence. Macroscopically, there was no PR in any person (neither patients nor controls). About half of the patients showed leukocytoclastic vasculitis and/or cellular infiltration (mainly neutrophilic). These findings are no specifics (they were seen in same controls) and have a low diagnostic sensitivity. Authors consider unsuitable the inclusion of PR, as an independent BD diagnostic criterion, in our country.