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.

Discondrosteosis de Leri-Weill. Mutación en gen SHOX y expresividad variable / Leri-Weill dyschondrosteosis. A variable expression SHOX gene mutation

Introducción: La primera descripción de una displasia mesomélica con acortamiento de extremidades fue realizada por Leri y Weill en 1929. De entonces se ha conocido el gen causal: SHOX, localizado en Xp22 y en Yp11.3, cuyas mutaciones se identifican entre el 56 y el 100% de los pacientes. Pacientes y métodos: Una de nuestras observaciones es familiar y la otra, aislada. Los diagnósticos en ambos casos fueron clínicos, apoyados por la radiología y el estudio molecular del gen SHOX por MLPA. Conclusiones: Su conocimiento tiene implicaciones terapéuticas dada la favorable evolución con hormona de crecimiento, además de posibles actuaciones quirúrgicas y del asesoramiento genético, dado su carácter hereditario autosómico dominante (AU)

Introduction: A mesomelic dysplasia with shortened limbs was first described by Leri and Weillin 1929. Since then the causal gene has been known as SHOX (short stature homeobox) gene, located in Xp22 and Yp11.3, with mutations being identified in between 56% and 100% of the patients. Patients and methods: One of the observations is familial and the other is an isolated case. The diagnosis in both cases was clinical, supported by radiology and a molecular study of the SHOX gene using multiplex ligation-dependent probe amplification (MLPA). Conclusions: Knowledge of this condition has therapeutic implications, given the favourable progress with growth hormone treatment, as well as possible surgical procedures and genetic counselling, due to its autosomal dominant hereditary character (AU)

[Leri-Weill dyschondrosteosis. A variable expression SHOX gene mutation]. / Discondrosteosis de Leri-Weill. Mutación en gen SHOX y expresividad variable.

INTRODUCTION: A mesomelic dysplasia with shortened limbs was first described by Leri and Weill in 1929. Since then the causal gene has been known as SHOX (short stature homeobox) gene, located in Xp22 and Yp11.3, with mutations being identified in between 56% and 100% of the patients. PATIENTS AND METHODS: One of the observations is familial and the other is an isolated case. The diagnosis in both cases was clinical, supported by radiology and a molecular study of the SHOX gene using multiplex ligation-dependent probe amplification (MLPA). CONCLUSIONS: Knowledge of this condition has therapeutic implications, given the favourable progress with growth hormone treatment, as well as possible surgical procedures and genetic counselling, due to its autosomal dominant hereditary character.

Hipocondroplasia. Diagnóstico Clínico, radiológico y genético. A propósito de dos observaciones precoces / Hypochondroplasia. Clinical, radiological and genetic diagnosis. Base don two early observations

La hipocondroplasia es una forma de hipocrecimiento por osteocondordisplasi, de posible infradiagnóstico y transmisión autosómica dominante. Forma menor de la condroplasia, con mutación igualmente localizada en el gen FGFR3, su conocimiento y precocidad en la identificación conducen al asesoramiento genético, a disminuir con medidas de higiene física sus posibles complicaciones y a plantear el alargamiento óseo para mejorar la falla final, mientras no tengamos otras soluciones médicas para ella (AU)

Hipochondroplasia is an osteochondrodyplasia characterized by short stature. Clinical and molecularly similar to achondroplasia since the shortening of legs and bowing of the extremities occur in both syndromes The causative mutations of both entities are in the FGFR3 gene. Misdiagnosis is common since clinical manifestations are subtle in hypochondroplasia. The knowledge, identification and genetic assessment are necessary to avoid possible complications and to evaluate orthopedic therapy with leg lengthening combined with correction of bowlegs as an alternative until we have something else to offer to these patients (AU)

Incontinentia pigmenti con inicio clínico atípico / Atypical onset of incontinentia pigmenti

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Las distintas formas del autismo y sus causas genéticas / The different forms of autism and their genetic causes

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Síndrome de Aarskog-Scott. A propósito de un caso con identificación molecular de la mutación génica / Aarskog-Scott syndrome. About a case report with molecular identification of the gene mutation

El síndrome de Aarskog-Scott, o displasia faciodigitogenital, fue descrito en 1970 por Aarskog. Es una entidad con herencia recesiva ligada al cromosoma X, con una amplia heterogeneidad genética, ya que se han descrito casos compatibles con la transmisión autosómica dominante o semidominante ligada al cromosoma X con expresión parcial en mujeres portadoras. Presentamos el caso de un paciente con datos clínicos compatibles con esta entidad, así como el estudio molecular realizado en él y en su madre, en quienes se encuentra una mutación (c.527insC) en el exón 3 del gen FGD1 (Xp11.21). Las mutaciones referidas hasta la fecha son específicas de un caso particular o familiar. Es importante conocer las diferentes mutaciones encontradas en las distintas poblaciones para intentar establecer una relación genotipo-fenotipo (AU)

The Aarskog-Scott syndrome (SAS) or faciodigitogenital dysplasia was described in 1970 by Aarskog. It is an entity with recessive heredity bond to X with broad genetic heterogeneity as compatible cases are with dominant or semi dominant autosomal transmission bond to X with partial expression in female carriers. We describe a patient with clinical data compatible to the entity and the molecular study performed to him and to his mother in which there is a mutation (c.527insC) in exon 3 of FGD1 gene (Xp11.21). The mutations known up to date are specific of a particular or family case. It is important to know the different mutations identified in different populations to try determining a phenotype-genotype relation (AU)

Microtia: a clinical and genetic study at the National Institute of Pediatrics in Mexico City.

BACKGROUND: Microtia is a malformation of the ear with extreme variability of expression. It is generally seen as an isolated malformation. However, some authors consider it to be a minimal manifestation of the oculo-auriculo-vertebral spectrum (OAVS), where, in addition, there are facial, vertebral, and renal abnormalities, among others. METHODS: A total of 145 pediatric patients with unilateral or bilateral microtia not considered as part of a syndrome were studied. All patients were subjected to an intentional clinical examination, a familial history, and radiographic imaging studies for ruling out associated malformations. Patients were classified into two groups: group 1 (60%), with isolated microtia; and group 2 (40%), considered as OAVS, with microtia associated with hemifacial skeletal microsomia, vertebral and/or renal malformations. RESULTS: No significant differences were found between the groups when the following variables were compared: gender; presence of unilateral or bilateral microtia; atretic external auditory canal; presence of preauricular tags; hearing loss of any type, and affection of the seventh cranial nerve, as well as associated malformations of other organs or systems. There were significant differences in relation to the presence of soft-tissue hemifacial microsomia, more frequently seen in patients with OAVS, because the majority of these patients had bone microsomia. Over 66% of the cases were sporadic and the rest were familiar. In 28.3% of the cases, the history suggested an autosomal-dominant inheritance pattern, and in 5.5%, an autosomal-recessive inheritance pattern, although in some familial cases, multifactorial inheritance could not be ignored. Some members in several families had isolated microtia, and others had mild characteristic manifestations of OAVS. CONCLUSIONS: Our results support the hypothesis that isolated microtia is a minimal expression of OAVS. Therefore, it is recommended that patients with microtia be subjected to intentional studies that search for malformations and physical examinations of first-degree relatives for adequate genetic counseling and management.