Laryngo-onycho-cutaneous syndrome (also known as Shabbir syndrome) is a rare
epithelial
Epithelium or epithelial tissue is one of the four basic types of animal tissue, along with connective tissue, muscle tissue and nervous tissue. It is a thin, continuous, protective layer of compactly packed cells with a little intercellula ...
disorder inherited in an
autosomal recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...
fashion.
It is characterized by abnormalities in the
larynx
The larynx (), commonly called the voice box, is an organ in the top of the neck involved in breathing, producing sound and protecting the trachea against food aspiration. The opening of larynx into pharynx known as the laryngeal inlet is about ...
,
nails ("
onycho-"), and skin ("cutaneous"). The disorder is only found in
Punjabi Muslims
Punjabi Muslims ( pa, ) are adherents of Islam who identify linguistically, culturally, and genealogically as Punjabis. Primarily geographically native to the Punjab province of Pakistan today, many have ancestry in the entire Punjab region, ...
and only a few cases have been reported.
It was characterized by Pakistani dermatologist
Syed Ghulam Shabbir (1923–2002) in 1986.
It may be associated with ''
LAMA3
Laminin subunit alpha-3 is a protein that in humans is encoded by the ''LAMA3'' gene.
Function
Laminins are basement membrane components thought to mediate the attachment, migration and organization of cells into tissues during embryonic develo ...
''.
See also
*
Watson syndrome
Watson syndrome is an autosomal dominant condition characterized by Lisch nodules of the ocular iris, axillary/inguinal freckling, pulmonary valvular stenosis, relative macrocephaly, short stature, and neurofibromas. Watson syndrome is allelic to ...
*
List of cutaneous conditions
Many skin conditions affect the human integumentary system—the organ system covering the entire surface of the body and composed of skin, hair, nails, and related muscle and glands. The major function of this system is as a barrier against t ...
References
External links
Laryngo-onycho-cutaneous syndromeon
MedlinePlus
MedlinePlus is an online information service produced by the United States National Library of Medicine. The service provides curated consumer health information in English and Spanish with select content in additional languages.
The site brings t ...
Genodermatoses
Syndromes affecting the skin
{{Dermatology-stub