Cutis marmorata telangiectásica congénita. Revisión de 33 casos / Cutis marmorata telangiectasia congénita. Review of 33 cases

Introducción: La cutis marmorata telangiectásica congénita (CMTC) es una infrecuente malformación vascular cutánea que se caracteriza por la presencia de un patrón localizado o generalizado, casi siempre asimétrico, de máculas reticuladas eritematosas o violáceas, presentes desde el nacimiento o poco después de éste. Pacientes y método: Estudio retrospectivo de 33 casos de CMTC diagnosticados entre 1994 y 2007 en la consulta de dermatología pediátrica de nuestro hospital, recogiéndose datos clínicos y evolutivos, y en algunos casos, otros exámenes complementarios. Resultados: El 51,5 % de los pacientes fueron mujeres. En el 87,9% de los casos las lesiones se observaron en el momento del nacimiento. Todos los casos fueron esporádicos. En el 72,7 % la distribución de las lesiones fue localizada, sobre todo afectando a los miembros inferiores. Se apreciaron anomalías asociadas en el 60,6 % de los casos, entre las que destacaban las alteraciones cutáneas (14 casos); entre las alteraciones extracutáneas, presentes en 11 pacientes, destacaron los trastornos tróficos de los miembros. En ningún caso se apreciaron alteraciones oftalmológicas o neurológicas. La mediana del tiempo de seguimiento fue de 14 meses. El 45 % de los pacientes mejoró y en un caso se objetivó la total resolución de las lesiones cutáneas. Conclusiones: La CMTC es una enfermedad malformativa con frecuentes anomalías asociadas. Es conveniente realizar una adecuada valoración y seguimiento de los pacientes. Consideramos necesaria la realización de una historia clínica completa en la que se incluya una exhaustiva exploración. Si la enfermedad afectase a la cabeza deberían realizarse exploraciones neurológica y oftalmológica. Generalmente, el pronóstico es bueno, y las lesiones cutáneas tienden a mejorar o a desaparecer en la mayoría de los casos (AU)

Introduction: Cutis marmorata telangiectatica congenita (CMTC) is an uncommon congenital vascular malformation characterized by the presence of a localized or generalized pattern, frequently asymmetrical, with reticulated, erythematous or violaceous macules, present at birth or shortly thereafter. Patients and method: Retrospective study of 33 cases of CMTC diagnosed between 1994 and 2007 in our hospital. Clinical and follow-up data were recorded in all cases. In some patients additional tests were performed. Results: Most of the patients (51.5 %) were female. In 87.9 % of the cases lesions were observed at birth. All the cases were sporadic. CMTC was localized in 72.7% of the patients, being distributed mainly over the lower limbs. Associated anomalies were noted in 60.6 %, with predominance of skin alterations (14 cases). Extracutaneous anomalies were present in 11 patients, most commonly atrophy and hypertrophy in the involved limbs. In none of the cases were there ocular or neurological manifestations. The average follow-up time was 14 months. Improvement of the lesions was observed in 45 %, and in one case there was complete resolution. Conclusions: CMTC is a malformative disease which is frequently associated with other abnormalities. An appropriate assessment and follow-up of these patients is advisable. Performing a thorough medical history, including full physical examination is necessary. If the head is affected, ocular and neurological examination should be performed. The prognosis is generally good, with a tendency to improvement or disappearance in most cases (AU)

[SOS1 mutation: a new cause of Noonan syndrome]. / Mutación en el gen SOS1 como nueva causa de síndrome de Noonan.

Noonan syndrome, characterized by short stature, facial anomalies, heart disease and cryptorchidism in males, is an autosomal dominant, genetically heterogeneous disease. Approximately 50 % of Noonan syndrome cases are caused by gain-of-function mutations in PTPN11, encoding the tyrosine phosphatase (SHP2) and 5 % are caused by KRAS mutations. Recently, a new mutation in SOS1 gene has been identified in approximately 20 % of cases of Noonan syndrome without PTPN11 mutation. That difference in genotype has a relationship with phenotype that we must investigate. We report a case of Noonan syndrome due to an SOS1 mutation; we describe his phenotype and subsequent outcome.

Mutación en el gen SOS1 como nueva causa de síndrome de Noonan / SOS1 mutation: a new cause of Noonan syndrome

El síndrome de Noonan, caracterizado generalmente por talla baja, dismorfia facial, defectos cardíacos y criptorquidia en varones, es una enfermedad autosómica dominante, genéticamente heterogénea. Su origen se encuentra en el 50 % en mutaciones en el gen PTPN11, que codifica la proteína tirosinfosfatasa (SHP2) y da lugar a un aumento de su función y en el 5 % a mutaciones del gen KRAS. Recientemente, se ha identificado una nueva mutación en el gen SOS1, que se relaciona aproximadamente con el 20 % de los síndromes de Noonan sin mutación en el gen PTPN11. Esta diferencia en el genotipo produce diferencias fenotípicas que debemos conocer. Presentamos un caso de síndrome de Noonan por una mutación en el gen SOS1 en el que se describe su fenotipo y evolución a lo largo de la infancia y la pubertad (AU)

Noonan syndrome, characterized by short stature, facial anomalies, heart disease and cryptorchidism in males, is an autosomal dominant, genetically heterogeneous disease. Approximately 50 % of Noonan syndrome cases are caused by gain-of-function mutations in PTPN11, encoding the tyrosine phosphatase (SHP2) and 5 % are caused by KRAS mutations. Recently, a new mutation in SOS1 gene has been identified in approximately 20 % of cases of Noonan syndrome without PTPN11 mutation. That difference in genotype has a relationship with phenotype that we must investigate. We report a case of Noonan syndrome due to an SOS1 mutation; we describe his phenotype and subsequent outcome (AU)

[Cutis marmorata telangiectatica congenita. Review of 33 cases]. / Cutis marmorata telangiectásica congénita. Revisión de 33 casos.

INTRODUCTION: Cutis marmorata telangiectatica congenita (CMTC) is an uncommon congenital vascular malformation characterized by the presence of a localized or generalized pattern, frequently asymmetrical, with reticulated, erythematous or violaceous macules, present at birth or shortly thereafter. PATIENTS AND METHOD: Retrospective study of 33 cases of CMTC diagnosed between 1994 and 2007 in our hospital. Clinical and follow-up data were recorded in all cases. In some patients additional tests were performed. RESULTS: Most of the patients (51.5%) were female. In 87.9% of the cases lesions were observed at birth. All the cases were sporadic. CMTC was localized in 72.7% of the patients, being distributed mainly over the lower limbs. Associated anomalies were noted in 60.6%, with predominance of skin alterations (14 cases). Extracutaneous anomalies were present in 11 patients, most commonly atrophy and hypertrophy in the involved limbs. In none of the cases were there ocular or neurological manifestations. The average follow-up time was 14 months. Improvement of the lesions was observed in 45%, and in one case there was complete resolution. CONCLUSIONS: CMTC is a malformative disease which is frequently associated with other abnormalities. An appropriate assessment and follow-up of these patients is advisable. Performing a thorough medical history, including full physical examination is necessary. If the head is affected, ocular and neurological examination should be performed. The prognosis is generally good, with a tendency to improvement or disappearance in most cases.

[Major histocompatibility complex class II deficiency]. / Déficit de expresión de moléculas de clase II del complejo mayor de histocompatibilidad.

Major histocompatibility complex class II deficiency is an autosomal recessive primary combined immunodeficiency. The prevalence of this deficiency is highest in Mediterranean areas, especially north Africa. Early diagnosis is essential due to high mortality in the first 2 years of life and the possibility of bone marrow transplantation. We report four cases of major histocompatibility complex class II deficiency and describe their epidemiologic and clinical characteristics, diagnostic tests, treatment and outcome.

Déficit de expresión de moléculas de clase II del complejo mayor de histocompatibilidad / Major histocompatibility complex class II deficiency

El déficit de expresión de moléculas de clase II del complejo mayor de histocompatibilidad es una inmunodeficiencia primaria combinada de herencia autosómica recesiva. Presenta mayor prevalencia en los países mediterráneos, sobre todo en el norte de África. La precocidad en el diagnóstico es vital, dada su elevada letalidad en los primeros 2 años de vida, así como su potencial tratamiento mediante trasplante de progenitores hematopoyéticos. Se presenta una revisión de 4 casos mediante la descripción de las características epidemiológicas y clínicas, las pruebas diagnósticas, el abordaje terapéutico y la posterior evolución

Major histocompatibility complex class II deficiency is an autosomal recessive primary combined immunodeficiency. The prevalence of this deficiency is highest in Mediterranean areas, especially north Africa. Early diagnosis is essential due to high mortality in the first 2 years of life and the possibility of bone marrow transplantation. We report four cases of major histocompatibility complex class II deficiency and describe their epidemiologic and clinical characteristics, diagnostic tests, treatment and outcome