The present report describes a man with acute myelogenous leukemia (AML) whose course was complicated by cutis verticis gyrata (CVG), a mediastinal mass, neuropathies, and hepatosplenomegaly as a result of visceral involvement. [ncbi.nlm.nih.gov]

The CVG developed under systemic corticosteroid treatment of an ulcerative colitis. Corticosteroids were discontinued and a therapeutic attempt was made with isotretinoin. [ncbi.nlm.nih.gov]

This report describes an unusual case of a neonate with giant congenital melanocytic nevi covering more than 80% of the body surface area, with cutis verticis gyrata and abnormal lacrimal glandular tissue rests in the epibulbar area. [ncbi.nlm.nih.gov]

We present a case of a 22-year-old man who presented with pain and swelling of both knees and hands. Enlarged wrists, ankles and feet were also noted, along with facial seborrhoea, thickening of the skin and deformity of the fingers. [ncbi.nlm.nih.gov]

The single locus on the long arm of chromosome 8 that showed homozygosity by descent comprised the gene responsible for Cohen syndrome (CS), VPS13B. We then sequenced VPS13B in the patients and found a homozygous splice site mutation. [ncbi.nlm.nih.gov]

Abstract We describe the cases of two brothers with microcephaly, primary cutis verticis gyrata of the scalp, prominent supraorbital ridges, large nose, hypertelorism, exotropia, progressive retinitis pigmentosa, cataracts, sensorineural hearing loss, [ncbi.nlm.nih.gov]

The patient did not have a history of neuropsychiatric disorders and was generally in good health except for diabetes mellitus, hypertension, and benign positional vertigo. [dermatology.cdlib.org]

The present report describes a man with acute myelogenous leukemia (AML) whose course was complicated by cutis verticis gyrata (CVG), a mediastinal mass, neuropathies, and hepatosplenomegaly as a result of visceral involvement. [ncbi.nlm.nih.gov]

The CVG developed under systemic corticosteroid treatment of an ulcerative colitis. Corticosteroids were discontinued and a therapeutic attempt was made with isotretinoin. [ncbi.nlm.nih.gov]