Bebé colodión: reporte de un caso / Collodion baby: a case report

El término bebé colodión define una rara dermatosis del recién nacido, caracterizada por una gruesa membrana que cubre la superficie corporal. Se describe el caso de un recién nacido masculino de parto eutócico de 38 semanas de gestación, con un peso al nacer de 3300 g, apgar en el momento del parto fue de 8/9, que al nacimiento presentó un cuadro cutáneo caracterizado por la presencia de una membrana gruesa y tensa que recordaba el pergamino o colodión, la cual recubría todo su cuerpo, ectropion palpebral, aplanamiento de las orejas y la nariz, en las primeras horas aparecieron fisuras en bandas en abdomen, cuello, muñecas, codo, axilas y región inguinal con posterior descamación en grandes láminas. Recibe atención especializada y estudio en servicio de neonatología del hospital sin presentar complicaciones; se trató la piel localmente con lubricantes no oclusivos. Diagnóstico: bebé colodión.

The collodion baby term defines a newborn rare dermatosis characterized by a thick membrane covering body surface. It describes a case of a newborn male from a vaginal delivery at 38 weeks of gestation, with a birth weight of 3300 g, Apgar score at the time of delivery was 8/9, which at birth showed a cutaneous picture characterized by the presence of a thick and tight membrane, that recalled the parchment or collodion, which covered them all over his body, eyelid ectropion, flattening of ears and nose, in the early hours cracks appear in bands on abdomen, neck, wrists, elbows, armpits and inguinal region with subsequent erythroderma with big scales.He receives specialized care and neonatology service study without complications, skin was treated locally with nonocclusive lubricants. Diagnosis: Collodion baby.

Presentación de un caso de hemidisplasia congénita con ictiosis eritrodérmica / Report of a congenital hemidysplasia with erythrodermic ichthyosis

La hemidisplasia congénita con ictiosis y defectos de las extremidades es una enfermedad infrecuente, hereditaria, monogénica, que se transmite como un rasgo dominante ligado al cromosoma X. Se presenta el caso de una paciente con este diagnóstico clínico neonatal, que presentaba eritrodermia ictiosiforme en el hemicuerpo derecho, acompañada de hipomelia del miembro superior e inferior derechos, defectos óseos en miembros afectados y columna vertebral, agenesia renal unilateral, cardiopatía congénita de tipo comunicación interventricular conoventricular y arteria umbilical única. Se realizaron las interconsultas necesarias, estudios sonográficos y radiológicos para completar el diagnóstico y se ofreció asesoramiento genético y seguimiento del caso según las complicaciones reportadas en la literatura médica y los hallazgos clínicos de la paciente.

Congenital hemidysplasia with icthyosis and limb defects is a hereditary, monogenic and infrequent disease transmitted as a dominant trait linked to the X chromosome. The case of a female patient with this neonatal clinical diagnosis showing ichthyosiform erythroderma on the right hemibody, accompanied with hypomelia of the right upper and lower limbs, bone defects in the affected limbs and spinal column, unilateral renal agenesia, congenital heart disease with inter- and conoventricular communication, and a unique umbilical artery was reported. The necessary inter-consultations were arranged and sonographic and radiological studies were conducted to complete the diagnosis. Genetic counselling was given and the case was followed up according to the complications reported in medical literature, and to the clinical findings of the patient.

Tay syndrome.

Tay syndrome or IBIDS is a rare autosomal recessive genetic disorder characterized by congenital ichthyosis and abnormal brittle hair (trichothiodystrophy). Other features include photosensitivity, abnormal nails and multiple developmental defects affecting organs mainly derived from neuroectoderm. The exact prevalence of this condition is not known, but up to 1991, clinical data of 15 cases with IBIDS were published .We report a case of Tay syndrome with additional features of Duane's retraction syndrome and Perthes disease, which have not yet been reported in literature.

[Hereditary ichthyosis in Tunisia: epidemiological study of 60 cases]

Ichthyosis are a group of inherited keratinizing disorders. The cutaneous abnormalities may be isolated or associated with extra-cutaneous symptoms. To report the epidemiological and clinical profiles of patients with these genodermatoses from a hospital Tunisian study. A retrospective study of all cases of ichihyosis referred during a period of 5 years to the department of dermatology of Charles Nicole's hospital of Tunis. Sixty cases of hereditary ichihyosis were seen. The sex-ratio was of 0.5. Parental consanguinity was noted in 36 patients [60%]. Seventeen patients [25.7%] had a positive familial history of ichthyosis. The clinical form of ichthyosis was determined in 52 cases. The nonbullous ichthyosiform erythroderma was observed in 25 patients [41.6%]. Sixty patients presented an ichihyosis vulgaris [26.6%]. The other forms of ichthyosis were rarely observed: 4 cases of X-linked recessive ichthyosis, 2 cases of lamellar ichthyosis and 2 cases of bullous iclithyosiform erythroderma. Two patients were born with collodion-like membranes. Two cases presented a complex syndrome. The NBIE, commonly considered as a rare form of ichthyosis, was the most frequently form seen in our study [41.6%], probably because of the high frequency of consanguineous marriages in Tunisia. The IV represents the most frequent form reported in the litterature and was observed in 25% of our patients. The classification of some ichthyosis associated with other extra-cutaneous abnormalities [found in 2 of our patients] remains difficult

Doença de Conradi (condrodisplasia pontuada congênita): relato de caso / Conradi's disease (chondrodysplasia congenita punctata): a case report

A doença de Conradi ou condrodisplasia pontuada congênita) é defeito multissistêmico com alteraçöes em órgäos como pele, ossos, olhos e coraçäo. Os autores relatam um caso dessa rara entidade acompanhado desde o nascimento até um ano de idade. Trata-se de criança do sexo feminino com lesöes cutâneas características desde o nascimento (eritrodermia ictiosiforme com escamas ásperas, aderentes e onduladas) que apresentaram melhora espontânea e resultaram em atrofia folicular. Os cabelos permaneceram rarefeitos, ásperos e foscos. Também foram observados encurtamento dos membros, luxaçäo coxofemoral bilateral, escoliose, palato ogival e epicanto. O desenvolvimento psicomotor e a expectativa de vida eram normais, e a paciente foi entäo classificada como portadora de condrodisplasia congênita pontuada dominante ligada ao X (Happle)