Skin, Hair and Nail Changes in a Case of Citrullinemia with Late Manifestation

Abstract

We report the case of a 56-year-old woman with a history of episodes of vomiting and coma. Hyperammoniemia, hypouremia, hypercitrullinemia and the decreased arginino-succinic synthetase activity on skin fibroblast cultures permitted us to diagnose citrullinemia. We think that the skin changes, i.e. atrophy of the epidermis, thin and short collagen bundles, dystrophic elastic fibers, increased fundamental matrix, were due to the undernutrition state and were not specific. The dosage of the amino acids of the total skin showed a decreased hydroxylation of lysine in the insoluble fraction, and the presence of pro-line and hypdroxyproline in the soluble fraction. These metabolic changes were not specific and evidenced the disorganization and the lysis of the connective tissue due to the undernutritional state. The nail changes, i.e. clubbed fingers and ‘half-and-half nail’ syndrome, were not specific either. The hair changes mentioned by other authors in newborns and young children, i.e. sparse and brittle blond hair, presence of transverse opaque bands (‘irregularly banded hair’), were not present in our case. We only found changes in the cuticle and some trichorrhexis which were not specific of the disease either.

Moderate citrullinaemia without hyperammonaemia in a child with mutated and deficient argininosuccinate synthetase

“…The frequently described neurological problems in patients with citrullinaemia, such as mental retardation and seizures, and periods of lethargy or coma, 1,[2][3][4][5][6]33,38 were not present in this patient. This may be due to the fact that, so far as we can tell, she has never experienced periods of hyperammonaemia or hypoargininaemia.…”

“…Some patients have been described with abnormalities of hair (pili torti) and skin. 5,6 The intrafamilial phenotype can show great variety. 7 In addtion, asymptomatic patients with citrullinaemia have been described.…”