Objective:To identify causative genes for autosomal recessive woolly hair (ARWH) in a family.Methods:Clinical data were collected from two patients and other family members in a Chinese pedigree of Han nationality with ARWH. Peripheral blood samples were obtained from the two patients, their unaffected parents and 100 unrelated healthy individuals, and DNA was extracted from the blood samples. A next-generation skin-targeted sequencing panel was used to detect gene mutations in the patients, and Sanger sequencing was performed to verify the sequencing results. The function of protein encoded by the mutant gene was predicted.Results:Two missense mutations c.530T>G (p.Leu177Arg) and c.736T>A (p.Cys246Ser) were both identified in the LIPH gene of the two patients, which were inherited from their father and mother respectively. Neither of the two mutations was identified in the 100 unrelated healthy controls. Interspecies sequence alignment showed that leucine at amino acid position 177 and cysteine at amino acid position 246 of the protein encoded by the LIPH gene were highly evolutionarily conserved. As SIFT and Polyphen-2 softwares showed, the mutations c.530T>G (p.Leu177Arg) and c.736T>A (p.Cys246Ser) were both predicted to be detrimental variations.Conclusion:Two missense mutations c.530T>G (p.Leu177Arg) and c.736T>A (p.Cys246Ser) in the LIPH gene may contribute to the clinical phenotype of the two patients with ARWH in this family.

Objective:To explore clinical results in reconstruction of finger C-shape soft tissue defect with the wrist crease free flap carrying cutaneous nerve.Methods:From June, 2017 to April, 2019, 7 fingers(7 patients) with C-shape defect were treated with the wrist crease free flap carrying cutaneous nerve. The size of defect ranged from 1.0 cm × 2.5 cm-2.2 cm × 4.0 cm; the flap sizes were 1.3 cm × 2.7 cm-2.5 cm × 4.5 cm. Five fingers had unilateral defect of proper palmar digital artery. Two fingers that had bilateral defect of proper palmar digital artery with poor blood circulation were re-established with blood supply by Flow-through flaps. Four fingers had unilateral defect of proper palmar digital nerves, and 3 had bilateral defect of proper palmar digital artery. Five of the fingers were repaired by the superficial branch of the radial nerve and 2 repaired by palmar cutaneous branch of median nerve. Regular outpatient follow-up was conducted after surgery for 8 to 15 (mean 11) months.Results:All the fingers and flaps survived with primary healing. Numbness existed in the areas of functional dominance of the cutaneous nerve. At the end of follow-up, the flaps showed good texture without significant bloated appearance with the recovery of protective sensation. The sensation of fingertip recovered to S 4 in 5 fingers and S 3+ in 2 fingers. Finger pulps were plump. All of the fingers moved freely. Linear scars were observed at donor sites and the wrists moved freely. Numbness feeling in the areas of cutaneous nerve disappeared at 6 to 8 weeks after surgery. According to the Functional Evaluation Criteria of the Finger Replantation published by the Hand Surgery Society of the Chinese Medical Association, the results were excellent in 6 fingers and good in 1 finger. Conclusion:The wrist crease free flap carrying cutaneous nerve is constant and can be dissected transversely to reconstruct and fit the C-shape defect of finger. It can re-establish the blood supply as well as to repair the proper palmar digital nerve defect at the same time.