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.

Anosmia

An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.


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PMID (PMCID)
9713559
 MALE Adult
Contiguous gene syndrome due to deletion of the first three exons of the Kallmann gene and complete deletion of the steroid sulphatase gene.
Maya-Nunez G, Cuevas-Covarrubias S, Zenteno JC, Ulloa-Aguirre A, Kofman-Alfaro S, Mendez JP.
Clin Endocrinol (Oxf). 1998;48(6):713-8.
Kallmann syndrome (hypogonadotrophic hypogonadism with anosmia or hyposmia) associated with X-linked ichthyosis, due to a contiguous gene syndrome, is an uncommon finding.
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.
7704955
 MALE Adult
Hypogonadotrophic hypogonadism with hyposmia, X-linked ichthyosis, and renal malformation syndrome.
Martul P, Pineda J, Levilliers J, Vazquez JA, Rodriguez-Soriano J, Loridan L, Diaz-Perez JL.
Clin Endocrinol (Oxf). 1995;42(2):121-8.
The absence of the gene encoding steroid sulphatase accounts for the X-linked ichthyosis in these patients, whereas the absence of the Kallmann syndrome gene accounts for hypogonadism, anosmia and for the single kidney found in two of the three patients.
3007328
 MALE Child
X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome.
Ballabio A, Parenti G, Tippett P, Mondello C, Di Maio S, Tenore A, Andria G.
Hum Genet. 1986;72(3):237-40.
The linkage analysis showed no crossovers between the disease, Xg, and DXS143, the locus defined by probe dic56, thus suggesting the possibility of a linkage between these two markers of the distal segment of Xp and the X-linked ichthyosis, hypogonadism, and anosmia syndrome.
3007328
 MALE Child
X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome.
Ballabio A, Parenti G, Tippett P, Mondello C, Di Maio S, Tenore A, Andria G.
Hum Genet. 1986;72(3):237-40.
X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome.