Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Recessive X-linked ichthyosis

Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin.

Micropenis

Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.

Total: 1

(per page)

PMID (PMCID)
9499614	MALE	Middle Aged
	X-linked ichthyosis with hypogonadism: not always Kallmann's syndrome.
	Quinton R, Schofield JK, Duke VM, Bouloux PM, Buchanan CR, Leigh IM, Wood DF. Clin Exp Dermatol. 1997;22(4):201-4.
	In the first patient a history of cryptorchidism and the clinical findings of anosmia, micropenis and bimanual synkinesis suggested a contiguous gene syndrome, comprising X-linked Kallmann's syndrome and X-linked ichthyosis.