Abstract

SAMPEDRO, Miguel. Síndrome de Cutis Marmorata Telangiectásica Congénita o Síndrome de Rothmund-Thompson. Rev. Venez. Endocrinol. Metab. [online]. 2009, vol.7, n.3, pp.29-32. ISSN 1690-3110.

Objectives: To present the case of a rare syndrome, the Rothmund-Thomson syndrome, autosomal recessive, attributable to a mutation in the RECQL4 helicase gene, 8q24. It is characterized by reticulate skin plaques, atrophic, hyperpigmented, telangiectatic, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of hair, nails, teeth, hypothyroidism, short stature and hypogonadism. Clinical case: A twelve year old girl came to the clinic because of short stature. Her personal and family history was unremarkable. Her parents noticed skin changes few days after birth. She has a delay in her school performance. Physical exam: height: 124cm, weight: 21kg, both below the third percentile for her age and sex; a bird face appearance. Skin pale with red spider thelangiectasias in the face, arms and abdomen. Generalized alopecia. Arched palate. There was skin and nail atrophy in both hands, irregular and malformed teeth and incisors projected forward. Goiter grade Ib, breasts with budding tanner stage II, there was no pubic hair. Bone age of 10 years. Laboratory tests: a diagnosis of primary hypothyroidism was made. She was started on L-Thyroxine 50 micrograms daily with an increase of 2cm when she came back three months later. An ophthalmological evaluation was normal. With the above clinical findings and clinical course we conclude that she has the Rothmund-Thomson Syndrome. Conclusions: The Rothmund Thompson syndrome is a rare clinical entity associated with a wide range of endocrine disruption, so we consider it is important to report this case.

Keywords : Cutis marmorata syndrome or Rothmund-Thomson syndrome; Congenital poikilodermia; Atrophyc poikilodermia and cataracts.