RESUMO
RESUMEN La incontinencia pigmentaria, también conocida como síndrome de Bloch-Sulzberger, es una rara genodermatosis ligada al cromosoma X, localizado en el Xq28. Afecta al sexo femenino y tiene diferentes expresiones clínicas en una misma familia. Es una enfermedad multisistémica, caracterizada por afectar de forma variable a los tejidos derivados del neuroectodermo, la piel, ojos, dientes y el sistema nervioso central. Las lesiones cutáneas son las más significativas desde el nacimiento, y la biopsia confirma el diagnóstico. Debido a la rareza de esta entidad, se presentó el caso de una lactante de un mes, con antecedente familiar de incontinencia pigmentaria, quien exhibía lesiones típicas en la piel desde la primera semana de vida, en diferentes fases, que siguen las líneas de Blaschko. Se constataron manifestaciones oculares y eosinofilia (AU).
ABSTRACT Pigmentary incontinence, also known as Bloch-Sulzberger syndrome, is a rare X chromosome-linked genodermatosis, located in Xq28. It affects the female sex and has different clinical manifestations in the same family. Ii is a multi-systemic disease characterized by affecting, in a variable way, the tissues derived from the neuroectoderm, the skin, the eyes, the teeth and the central nervous system. Skin lesions are the most significant ones since birth time, and skin biopsy confirms the diagnosis. Due to the rareness of this entity, we presented the case of a nursing female infant aged one month, with a family history of pigmentary incontinence, who presented typical lesions in the skin, since his first week of life, in different phases, following the lines of Blaschko. Ocular manifestations and eosinophilia were confirmed (AU).
Assuntos
Humanos , Feminino , Incontinência Pigmentar/epidemiologia , Doença/genética , Sinais e Sintomas , Biópsia/métodos , Incontinência Pigmentar/complicações , Incontinência Pigmentar/diagnóstico , Incontinência Pigmentar/terapiaRESUMO
INTRODUCCIÓN. La incontinencia pigmentaria es una rara genodermatosis, presente habitualmente en el sexo femenino, que se caracteriza por alteraciones en los derivados del ectodermo superficial y del neuroectodermo. El objetivo de esta investigación fue resumir las características clínicas de esta entidad. MÉTODOS. Se revisaron 28 historias clínicas de niños atendidos en la consulta de genética clínica del Hospital Pediátrico William Soler (Ciudad de La Habana), que tenían diagnóstico clínico de incontinencia pigmentaria. De las historias se tomaron los datos sobre el inicio y evolución de la enfermedad, así como la información aportada por las interconsultas de varias especialidades como dermatología, estomatología y neurología. Cuando fue posible se hizo una reevaluación clínica de los afectados. RESULTADOS. Solo 1 de los 28 pacientes era del sexo masculino. Entre las primeras lesiones detectadas se encontraron 13 casos de vesículas (43,3 por ciento), 2 casos de eritema y 2 de descamación. Se encontraron máculas de tipo hipercrómicas en 27 niños (96,6 por ciento), hipocrómicas en solo 1 y verrugosas en 3. Las lesiones se distribuyeron en los miembros inferiores en 22 casos (73,3 por ciento) y en 19 casos en los miembros superiores y en el tórax (63,3 por ciento); en 21 pacientes (70 por ciento) fueron bilaterales. Con respecto a los anexos de la piel, se encontró alopecia en 3 casos (10 por ciento), hipodoncia en 8 casos (26,6 por ciento) y distrofia de las uñas en 3 (10 por ciento). Se encontraron escleras azules en 6 casos (20 por ciento) y estrabismo en 5 (16,6 por ciento). Como expresión de daño del sistema nervioso central se observó retraso mental en 12 casos (40 por ciento) y convulsiones en 6 (20 por ciento). CONCLUSIONES. La incontinencia pigmentaria es una entidad heterogénea desde el punto de vista clínico, pero es posible su reconocimiento por alteraciones en la piel que atraviesan estadios previsibles
INTRODUCTION. The pigmentary incontinence is an uncommon genodermatosis usually present in female sex characterized by alterations in derivatives of superficial ectoderm and of neuroectoderm. The aim of present research was to summarize the clinical features of this entity. METHODS. Twenty eight medical records from children seen in the clinical genetics consultation of "William Soler" Children Hospital (Ciudad de La Habana) diagnosed with pigmentary incontinence. From the medical records we got the data on onset and course of this disease, as well as the information offered by inter-consultations of some specialties including Dermatology, Stomatology and Neurology. When it was possible a clinical re-assessment of involved was carried out. RESULTS. Only 1 of the 28 patients was of male sex. Among the first lesions detected were the presence of vesicles in 13 cases (43,3 percent), erythema in 2 cases and epidermis shedding in 2 cases. There were hyperchromic maculae in 27 children (96,6 percent), hypochromic in only one and verrucous type in three. Lesions were distributed in lower extremities in 22 cases (73,3 percent) in upper extremities and thorax in 19 cases (63,3 percent) and in 21 patients (70 percent) were bilateral. Regarding the skin annexes there was alopecia in 3 cases (10 percent), hypodontia in 8 cases (26,6 percent) and nails dystrophy in 3 cases (10 percent), as well as blue sclera in 6 cases (20 percent) and strabismus in 5 cases (16,6 percent). As an expression of damage in the central nervous system there was mental retardation in 12 cases (40 percent) and convulsions in 6 cases (20 percent). CONCLUSIONS. The pigmentary incontinence is a heterogeneous entity from the clinical point of view but it is possible its recognition due to skin alterations to go through foreseeable stages. It is necessary to take into account that it could be masked by the skin color or by the moment of physical examination of patient
Assuntos
Humanos , Feminino , Criança , Displasia Ectodérmica/genética , Incontinência Pigmentar/diagnósticoRESUMO
Lichen nitidus, characterized by its typical clinical and histopathologic findings, is an uncomrnon chronic dermatosis of unknowned etiology. The distribution of this disease is most often localized, but in some cases it may becorne generalized. Some authors suggested that lichen nitidus is a variant of lichen planus in terms of its coincidence, ultrastructural and immunophenot,ypic studies. We report herein a case of lichen nitidus which presents dark brown linear, grouped, or confluent papules on the face, cheat, and upper extremities, accompanying with the histopathologic findings of pigmentary incontirence in the portion of claw clutching a ball appearance. This report suggests that lichen nitidus shows hyperpigmentation clinically and could be one of the dermatoses which exhibit pigmentavy incontinence in a histopathologic study.