1/2. Managing ichthyosis: a case study.Ichthyoses-- rare, genetic, incurable dermatologic diseases characterized by dry, thickened, scaling skin-- affect more than 1 million Americans and can cause devastating disfigurement with numerous physical, social, and emotional consequences. Topical treatments typically focus on symptom management. A 44-year-old man presented with severe X-linked type ichthyosis. When his condition did not improve with the use of a variety of topical and systemic treatments, a once-a-day, over-the-counter skin care regimen consisting of a surfactant-free cleanser followed by the application of moisturizer containing amino acids, vitamins, antioxidants, and methylsulfonylmethane was prescribed. After 4 weeks of using this management regimen on a test area on his left arm, the skin was clear and discomfort and itching had subsided. Subsequent application of the skin care products on other affected areas also did not cause any adverse reactions and his skin continued to improve. Symptom resolution and patient satisfaction indicate the product line may be a viable consideration for use in patients with similarly compromised skin.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/2. Analysis of an interstitial deletion in a patient with kallmann syndrome, X-linked ichthyosis and mental retardation.Contiguous gene syndromes are an interesting clinical phenomenon, resulting from interstitial or terminal deletions of several adjacent genes. The phenotype results in a combination of two or more monogenic disorders and relates clinical findings to corresponding genotypes. We present the case of a male patient with kallmann syndrome (KS), X-linked ichthyosis (XLI) and X-linked mental retardation (MRX). He was referred at the age of 15.4 years for delayed puberty and obesity. He had a previous history of pyloric stenosis, bilateral orchidopexy and surgical correction of a pes equinovarus adductus. On physical examination, generalised ichthyosis and hypoplastic external genitalia were found. KS was evident with hypogonadotropic hypogonadism, hyposmia and a hypoplastic anlage of the olfactory tract in magnetic resonance imaging. Lipoprotein electrophoresis, and lack of steroid sulfatase and arylsulfatase-C activity in leucocytes confirmed XLI. dna investigation established an interstitial deletion in Xp22.3 involving the Kallmann (KAL) gene, the steroid sulfatase (STS) gene and a putative mental retardation locus (MRX). The novel MRX locus maps to a 1-Mb region between DXS1060 and GS1.- - - - - - - - - - ranking = 18.428297010821keywords = physical examination, physical (Clic here for more details about this article) |