A girl with loose anagen hair syndrome and concurrent uncombable hair syndrome

Unruly Hair with Irregular Cross Sections: Answer

“…1 There is no associated hair loss or fragility, and symptoms typically spontaneously improve going into adolescence. 1,2 Although UHS is typically an isolated finding, it has also been reported in the setting of other conditions, including ectodermal dysplasias with associated abnormalities of the teeth, nails, and sweat glands as reported by the present patient. 1,2…”

“…1,2 Although UHS is typically an isolated finding, it has also been reported in the setting of other conditions, including ectodermal dysplasias with associated abnormalities of the teeth, nails, and sweat glands as reported by the present patient. 1,2 The genetic background of UHS was unclear for many years, but it is now known that several genes, including PADI3, TCHH, and TGM3, are implicated in the disease processes. 3 These genes function off one another and encode proteins vital for proper hair shaft formation.…”

“…10 Interestingly, one case of concurrent loose anagen syndrome and UHS has been reported. 2 In conclusion, we present a case of autosomal recessive UHS caused by a mutation in PADI3 with characteristic abnormal cross-sections identified on light microscopic examination following a paraffin-embedding technique. Our case adds to the literature on the association of dental, nail, and sweat gland abnormalities in a minority of patients with UHS.…”

Transglutaminase 3: The Involvement in Epithelial Differentiation and Cancer

“…The majority of cases are inherited in an autosomal dominant manner with either complete or incomplete penetrance, and sporadic cases sometimes also take place [ 42 , 98 , 100 , 101 ]. UHS is mostly an isolated condition of the hair, but it has occasionally been observed with additional symptoms, such as loose anagen hair syndrome, ectodermal dysplasias, retinopathia pigmentosa, and juvenile cataract [ 102 , 103 , 104 , 105 ].…”