[Progeria syndrome with congenital livedo reticularis lesion: a case report]

Progeria syndrome is a very rare genetic disorder with and 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. Patients was a 15-month-old male infant diagnosed with growth failure: 4.9 kg weight, 63 cm 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. 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

[Progeroid syndrome and mutation in LMNA gene: report of two cases from Iran]

Two Iranian cases with very rare progeroid syndrome are reported. The first is a 24-year-old girl who has been healthy till her 13[th] birthday. From that time she has been suffering from a progressive generalized and multi-systemic illness. The cardinal clinical findings were growth retardation, subcutaneous fat loss, skin dryness and wrinkling, scattered focal sclerodermoid-like changes, prominence of superficial vessels, gradual loss of scalp hair and eyebrows and cardiac involvement in the form of dilated cardiomyopathy. All the above findings were suggestive of precocious ageing and the clinical diagnosis of Werner syndrome. The second case is a 6-year-old boy with typical clinical findings of Progeria or Hutchinson-Gilford syndrome. The diagnoses were confirmed by molecular analysis of the samples in Washington and Marseille. In the first case there was no molecular abnormality in Werner's gene[WRN], but there was a mutation in the LMNA gene. The mutation was substitution of C to G in codon number 57, and the codon GCA [alanine] changed to CCA [proline]. So, in the codon 57 of the protein Lamin A/C proline had replaced alanine [A57>P]. The mutation in the second case [Progeria=Hutchinson-Gilford syn.] was a point mutation at the exon 11 of Lamin A/C protein resulting in the replacement of thymine by cytosine in the nucleotide number 1824[1824C>T]. The importance of lamins and the mechanism and pathogenesis of progeroid syndromes are discussed briefly