Progeria syndrome with congenital livedo reticularis lesion: A case report

Background: Progeria syndrome is a very rare genetic disorder with an incidence of 1 in 8 million live births that is probably due to autosomal dominant mutation. Clinical presentations show features of premature aging, growth failure, characteristic face, alopecia, loss of subcutaneous fat and stiffness of a joint that all become apparent during the 2nd year of life. The aim of this case report is presenting a rare congenital livedo reticularis case and reviewing the signs and symptoms of this patient.

Case report: Patient was a 15-month-old male infant diagnosed with growth failure: 4.9 kg weight, 63 cm height and 48 cm head circumference who was admitted because of failure to thrive. The patient was outcome of a full-term pregnancy with no problems in parents except for livedo reticularis. The patient's facial appearance reminded of fledgling bird with a small face , very sparse scalp hair , absent eyelash and eyebrow, micrognathia, thin lips, prominent ears and absence of an ear lobule. Physical examination of skin revealed dryness, being shiny, mild tautness, loss of the subcutaneous fat and livedo reticularis lesions. Based on clinical finding and paraclinical evaluations, the case was diagnosed with Hutchinson-Gilford or Progeria syndrome.

Conclusion: This study showed that careful history taking and exact physical examination of the patients led to the diagnosis of a rare syndrome and finding new signs as well. The important finding here was the presence of congenital livedo reticularis along with  progeria syndrome which had not been reported previously in the literature.