Incontinencia pigmenti. Cuatro pacientes con diferentes manifestaciones clínicas / Incontinentia pigmenti. Four patients with different clinical manifestations

La incontinencia pigmenti (IP) es un trastorno neurocutáneo raro, con una frecuencia de 1 en 50.000 recién nacidos, de etiología genética asociada a mutaciones en el gen IKBKG (NEMO) en Xq28, con herencia dominante ligada al X. Tiene una presentación clínica de manifestaciones muy variables detectadas desde la etapa neonatal, con 3 estadios bien definidos en forma secuencial, solapada o salteada, y cada una de estos con un diagnóstico diferencial distinto. Mediante la técnica molecular de PCR+RFLP se analizó el gen IKBKG en cuatro pacientes diferentes con manifestaciones sospechosas de IP además de la biopsia de piel confirmatoria; en todas se detectó la deleción de los exones 4 al 10. Destacamos que ante la sospecha clínica de IP es importante el estudio familiar y el multidisciplinario (complicaciones neurológicas, oculares...), y el necesario asesoramiento genético(AU)

Incontinentia pigmenti (IP) is a rare neurocutaneous disorder with a frequency of 1 in 50,000 newborn, and is associated with mutations in IKBKG gene (NEMO) in Xq28, inherited as an X-linked dominant trait. Clinical manifestations detected since the newborn period are highly variable, with 3 well established sequential or overlapped states and each with a characteristic differential diagnosis. With PCR+RFLPs, we analyzed the IKBKG gene in 4 patients with different clinical manifestations and characteristic skin biopsy. In all 4 patients the same deletion of exons 4 to 10 was identified. In female patients in whom the dermatological lesions lead to the suspicion of an IP diagnosis, it is important to have the complete, multidisciplinary and molecular analysis of their first level female relatives. This should give us a clear diagnosis, which is the first step to complete genetic counselling(AU)

[Incontinentia pigmenti. Four patients with different clinical manifestations]. / Incontinencia pigmenti. Cuatro pacientes con diferentes manifestaciones clínicas.

Incontinentia pigmenti (IP) is a rare neurocutaneous disorder with a frequency of 1 in 50,000 newborn, and is associated with mutations in IKBKG gene (NEMO) in Xq28, inherited as an X-linked dominant trait. Clinical manifestations detected since the newborn period are highly variable, with 3 well established sequential or overlapped states and each with a characteristic differential diagnosis. With PCR+RFLPs, we analyzed the IKBKG gene in 4 patients with different clinical manifestations and characteristic skin biopsy. In all 4 patients the same deletion of exons 4 to 10 was identified. In female patients in whom the dermatological lesions lead to the suspicion of an IP diagnosis, it is important to have the complete, multidisciplinary and molecular analysis of their first level female relatives. This should give us a clear diagnosis, which is the first step to complete genetic counselling.

Surface microscopy for discriminating between common urticaria and urticarial vasculitis.

BACKGROUND: Urticarial vasculitis is a clinicopathological entity that overlaps with common urticaria, and biopsy is required for differentiation between them. OBJECTIVE: To determine, for the first time, if skin surface microscopy can aid in the clinical differentiation between common urticaria and urticarial vasculitis in daily practice. PATIENTS AND METHODS: Lesions in 20 consecutive patients with a clinical diagnosis of urticaria were studied by biopsy and skin surface microscopy (10x dermoscope) after covering the lesions with olive oil. Lesions were photographed with Dermaphot equipment. A biopsy was taken from all patients. Statistical analysis included Fisher's exact test and Cohen kappa statistics (intra-observer reproducibility). RESULTS: Two dermoscopic patterns were observed: (i). a red-lined vascular pattern (17/20 patients); and (ii). a purpuric globular pattern (3/20 patients). Leucocytoclastic vasculitis was demonstrated histologically in all lesions presenting purpuric globules (3/3) but in none of the lesions presenting a dermoscopic red-lined pattern (P < 0.0008). The intra-observer reproducibility for scoring the red lines and purpuric globules was excellent (kappa=0.8). CONCLUSION: The results of this pilot study suggest that skin surface microscopy, using a 10x dermoscope, detects purpuric globules in urticarial lesions, and that purpuric globules indicate underlying leucocytoclastic vasculitis.

Localized granuloma annulare and autoimmune thyroiditis in adult women: a case-control study.

BACKGROUND: The coexistence of granuloma annulare (GA) and autoimmune thyroiditis (AT) has been sporadically observed in female patients, but the significance of this rarely reported association remains uncertain. OBJECTIVE: To investigate for the first time the frequency and type of thyroid disease in adult women with localized granuloma annulare (LGA) compared with a matched control group. METHODS: Twenty-four adult women with histology-proven LGA and a control group of 100 age-matched female patients with other unrelated cutaneous diseases were screened for thyroid disease in a tertiary teaching hospital in northern Spain. Laboratory evaluation included routine hematologic and chemistry analysis, antinuclear antibody, rheumatoid factor, thyroid function test (sensitive thyroid-stimulating hormone [TSH]), thyroid autoantibody levels, and antibodies to thyroid peroxidase in all patients and controls. Thyroid hormones (free triiodothyroxine and free thyroxine) were measured when TSH value was abnormal. AT was defined as hypothyroidism (TSH value >5 mU/L) and in addition to elevated antithyroid antibodies or characteristic thyroid biopsy. The results were compared using Fisher's exact test. RESULTS: Statistical evaluation of the findings obtained in this study showed mainly that the frequency of AT was increased significantly in the group of adult women with LGA (3/24, 12%) compared with the matched control group (1/100) (Fisher's exact test: P =.022). CONCLUSION: Although little can be inferred from a single investigation, the results of this pilot study indicate an association between LGA and AT in adult female patients, supporting the theory that at least a subset of GA belongs to the spectrum of autoimmune diseases.

Linfomas cutáneos primarios de células B / Prymary cutaneous B-cell limphomata

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Distrofia de las veinte uñas: dos casosde presentación familiar / Onycodystrophia of all twenty nails: two cases with familial presentation

Presentamos el caso de dos hermanos con distrofia de las veinte uñas (DVU). Se describen los aspectos clínicos, histopatológicos y etiopatogénicos de esta rara entidad. Destacamos la escasa frecuencia con la que en la literatura dermatológica aparecen descritos casos de DVU de presentación familiar (AU)

Chondroid syringoma: a histological and immunohistochemical study of 15 cases.

Fifteen cases of chondroid syringoma have been studied histologically and by immunohistochemical methods in an attempt to establish their phenotypic profile and to elucidate their histogenesis. The epithelial elements were classified as tubuloglandular, solid nests and stromal cells. The inner cell layers of tubuloglandular components had distinct epithelial features, expressing cytokeratin, carcino-embryonic antigen and epithelial membrane antigen. The outer cell layers expressed vimentin, S-100 protein, neuron-specific enolase and muscle-specific actin and were negative for epithelial markers. The immunophenotypes of stromal cells and solid nests were similar to those of the outer cell layers. These data suggest that the stromal components may derive from the outer cell of tubuloglandular elements and that myo-epithelial cells have an important role in the histogenesis of these lesions and in their mesenchymal matrix production.

[Ehlers-Danlos syndrome: apropos of three cases]. / Síndrome de Ehlers-Danlos: a propósito de tres casos.

3 children, 2 male and one female, affected by Ehlers-Danlos syndrome, types I or dangerous, III or mild familiar hypermobility, and (II or V)? or intermediate. The types I and (II or V)? normally affect the skin and the lower extremities, in the form of breakable skin, hyperelasticity... The type III predominantly attacks the joints and tends to dislocate bones. In the dermic distant zones, the skin is thin with excessive folds. The importance of early detection is due to prevention or control or the complications (depending on the type of illness), and inform about the genetic risk, based in a correct typification, this has clinics difficult because there are intermediary forms and it is necessary a specialized laboratory in collagen's studies.