Uncombable hair syndrome

Uncombable hair syndrome is a rare hair-shaft disorder in which scalp hair is dry, frizzy, and stands out from the head. Its distinctive texture makes the hair difficult to comb flat.

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PADI3: PADI3 is an enzyme involved in processing proteins during hair-shaft formation. Variants in this gene can disrupt hair-shaft formation in uncombable hair syndrome.
Hair texture: Hair texture describes the physical form and feel of hair fibers, including straightness, curl, and coarseness. Uncombable hair syndrome changes texture in a distinctive way without simply causing ordinary curliness.
Hair microscopy: Hair microscopy examines individual fibers under magnification to reveal their structure and surface features. Microscopy can show the characteristic shaft shape supporting diagnosis.
Woolly hair: Woolly hair is tightly curled hair with unusually small, closely packed waves. Both conditions alter hair appearance, but woolly hair is defined by tight curls rather than hair that stands out.
Anne Dupre: Anne Dupre was a physician who co-authored an early clinical description of uncombable hair syndrome. Her work helped establish the syndrome’s recognizable clinical features.
TGM3: TGM3 is an enzyme that helps cross-link proteins in hair and skin. TGM3 variants are one genetic cause of the syndrome’s altered hair structure.
Keratin: Keratin is a family of structural proteins that forms hair, nails, and the outer layer of skin. Hair shafts are built largely from keratin, whose organization affects their strength and shape.
Genetic testing: Genetic testing analyzes DNA to identify variants associated with a condition. Testing can help confirm a suspected inherited hair-shaft disorder.
Monilethrix: Monilethrix is an inherited hair-shaft disorder marked by regularly spaced constrictions and nodes along hair fibers. Its patterned shaft defects and tendency toward hair fragility differ from uncombable hair syndrome.
M. P. C. L. Leroy: M. P. C. L. Leroy was a physician who co-authored an early report on uncombable hair syndrome. The early report helped bring the distinctive hair-shaft condition into medical literature.