Uncombable hair syndrome (UHS), also known as "spun glass hair syndrome," "pili trianguli et canaliculi," or "cheveux incoiffables" is a rare anomaly of the hair shaft that occurs in children and improves with age. UHS is characterized by dry, frizzy, spangly, and often fair hair that is resistant to being combed flat. Until now, both simplex and familial UHS-affected case subjects with autosomal-dominant as well as -recessive inheritance have been reported. However, none of these case subjects were linked to a molecular genetic cause. Here, we report the identification of UHS-causative mutations located in the three genes PADI3 (peptidylarginine deiminase 3), TGM3 (transglutaminase 3), and TCHH (trichohyalin) in a total of 11 children. All of these individuals carry homozygous or compound heterozygous mutations in one of these three genes, indicating an autosomal-recessive inheritance pattern in the majority of UHS case subjects. The two enzymes PADI3 and TGM3, responsible for posttranslational protein modifications, and their target structural protein TCHH are all involved in hair shaft formation. Elucidation of the molecular outcomes of the disease-causing mutations by cell culture experiments and tridimensional protein models demonstrated clear differences in the structural organization and activity of mutant and wild-type proteins. Scanning electron microscopy observations revealed morphological alterations in hair coat of Padi3 knockout mice. All together, these findings elucidate the molecular genetic causes of UHS and shed light on its pathophysiology and hair physiology in general.

Radiotherapy applied against the SCC previously, together with sunlight exposure may cause early malignant transformation of skin lesions and the destructive tumors.

Homocysteine levels correlated with psoriasis area and severity index in the patient group, which shows the disease severity. The increase in cardiovascular mortality with the severity of psoriasis might be also due to the effects of homocysteine.

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This study documents the spectrum and frequency of skin disorders in a total of 2370 children encountered in a dermatology outpatient clinic in Turkey. Infectious skin diseases were most frequently observed (27.6%) followed by, eczemas (17.9%), acne (14,5%), papulosquamous diseases (6.9%), hair diseases (4.1%), pigmentation disorders (3.8%), generalized pruritus (2.8%), urticaria (2.7%), and insect bite (2.3%). Epidemiologic data are useful in planning of the health care and taking preventive measures to decrease the prevalence of skin disorders in children.