Laryngo-onycho-cutaneous syndrome (also known as Shabbir syndrome) is a rare
epithelial
Epithelium or epithelial tissue is a thin, continuous, protective layer of cells with little extracellular matrix. An example is the epidermis, the outermost layer of the skin. Epithelial ( mesothelial) tissues line the outer surfaces of man ...
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 Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The firs ...
fashion.
It is characterized by abnormalities in the
larynx
The larynx (), commonly called the voice box, is an organ (anatomy), 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 ...
,
nails ("
onycho-"), and skin ("cutaneous"). The disorder is only found in
Punjabi Muslims
Punjabi Muslims are Punjabis who are adherents of Islam. With a population of more than 112 million, they are the third-largest predominantly Islam-adhering Muslims, Muslim ethnicity in the world, after Arab Muslims, Arabs and Bengali Muslims, ...
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 devel ...
''.
See also
*
Watson syndrome
Watson syndrome is a rare genetic condition characterised by café-au-lait patches of skin, short stature, pulmonary stenosis, developmental delays, and learning difficulties. Its inheritance is autosomal dominant, and it may also occur with Lisc ...
*
List of cutaneous conditions
Many skin conditions affect the human integumentary system—the organ system covering the entire surface of the Human body, body and composed of Human skin, skin, hair, Nail (anatomy), nails, and related muscle and glands. The major function o ...
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 ...
Genodermatoses
Syndromes affecting the skin
{{Genodermatoses-stub}