ABSTRACT
Acanthosis nigricans has been described in several autosomal dominant skeletal dysplasia syndromes due to germline FGFR3 mutations, but rarely specifically in patients with hypochondroplasia. We report a child who presented with extensive acanthosis nigricans, short stature, and radiographic evidence of hypochondroplasia. Genetic analysis revealed a heterozygous K650Q mutation in FGFR3.
Subject(s)
Acanthosis Nigricans/complications , Acanthosis Nigricans/genetics , Osteochondrodysplasias/complications , Osteochondrodysplasias/genetics , Receptor, Fibroblast Growth Factor, Type 3/genetics , Acanthosis Nigricans/diagnostic imaging , Child , Female , Humans , Osteochondrodysplasias/diagnostic imaging , Point Mutation , RadiographyABSTRACT
El síndrome de Cross, una entidad génica autosómica recesiva, ha sido clasificado entre los albinismos oculocutáneos con anomalías oculares severas, déficit de crecimiento y compromiso neurológico progresivo. En este trabajo se presenta una paciente con este diagnóstico y se exponen sus principales diagnósticos diferenciales: síndromes de Preus y de Tietz. Destacamos la importancia de reconocer cada entidad, realizar su adecuado seguimiento y tratamiento y asesorar a la familia desde el punto de vista genético, ya que mientras los síndromes de Cross y de Preus son de herencia autosómica recesiva, el de Tietz es de herencia autosómica dominante.
Cross syndrome, an autosomal recessive genetic disorder, has been classified between the oculocutaneous albinisms with gross ocular anomalies, growth retardation and progressive neurological impairment. The present work reports a female patient with this syndrome and shows its main differential diagnosis: Preus and Tietz syndrome. We emphasize the importance of recognize each entity, do the correct follow up and treatment and assess genetically the family, since Preus and Cross syndromes are autosomal recessive diseases while Tietz syndrome is an autosomal dominant one.
