OBJECTIVE: To explore the genetic basis for a child featuring short stature and postaxial polydactyly. METHODS: A child who presented at Ningbo Women & Children's Hospital in May 2021 due to the"discovery of growth retardation for more than two years" was selected as the subject. Peripheral blood samples of the child and his parents were collected for the extraction of genomic DNA. Whole exome sequencing was carried out for the child, and candidate variant was verified by Sanger sequencing of his family members. RESULTS: The child was found to harbor a heterozygous c.3670C>T (p.Q1224) variant of the GLI2 gene, which may lead to premature termination of protein translation. The variant was not detected in either parent. CONCLUSION The child was diagnosed with Culler-Jones syndrome. The c.3670C>T (p.Q1224*) variant of the GLI2 gene probably underlay the disease in this child.
Child ; Female ; Humans ; Fingers ; Mutation ; Nuclear Proteins/genetics* ; Polydactyly/genetics* ; Toes ; Zinc Finger Protein Gli2/genetics*

OBJECTIVE: To investigate the effectiveness of finger reconstruction using nail flap anastomosing the nerve branch of the first toe nail bed. METHODS: Between January 2016 and December 2022, 18 patients (18 fingers) with thumb or finger nail bed defects were admitted. There were 12 males and 6 females, with an average age of 32 years (range, 19-42 years). Four cases were finger tip tissue damage caused by machine compression, and 4 cases were distal tissue necrosis after finger replantation. There were 9 cases of thumb injury, 3 cases of index finger injury, 5 cases of middle finger injury, and 1 case of ring finger injury. There were 11 cases of distal nail damage and 7 cases of distal nail root (including nail root) damage. The time from injury to admission was 1-5 hours, with an average of 2 hours. After debridement and anti-infection treatment for 5-7 days, the wounds in size of 1 cm×1 cm to 4 cm×3 cm were reconstructed by using nail flaps anastomosing the nerve branches of the first toe nail bed. The size of the nail flaps ranged from 1.5 cm×1.5 cm to 4.5 cm×3.5 cm. The donor sites were repaired with the flaps in 16 cases and skin graft in 2 cases. RESULTS: All nail flaps, flaps, and skin grafts survived after operation and the wounds healed by first intention. All patients were followed up 6-12 months (mean, 10 months). The nails of 18 cases were all grown, in which 16 cases had smooth nails with satisfactory appearances, 1 case had uneven nails, and 1 case had obvious scar hyperplasia around the suture opening. At 6 months after operation, the two-point discrimination of the skin flap was 4-8 mm (mean, 6 mm). Meanwhile, the skin grafts and flaps at the donor sites regained protective sensation, good abrasion resistance, and had no negative effect upon walking and wearing shoes. CONCLUSION The application of a nail flap that anastomoses the nerve branch of the first toe nail bed for finger reconstruction has minimal damage and can achieve good nail bed repair results.
Male ; Female ; Humans ; Adult ; Nails/injuries* ; Plastic Surgery Procedures ; Finger Injuries/surgery* ; Surgical Flaps/innervation* ; Skin Transplantation/methods* ; Toes/injuries* ; Soft Tissue Injuries/surgery* ; Treatment Outcome

OBJECTIVE: To explore asurgical methods for replantation of severed finger. METHODS: From January 2018 to November 2022, 8 amputated-finger patients were performed surgical reconstructions by using polyfoliate free flaps with the first dorsal metatarsal artery, including 7 males and 1 female, aged from 20 to 55 years old, and defect areas ranged from (1.0 to 2.0) cm×(3.0 to 4.5) cm. Finger pulp sensation, shape and other relevant parameters were assessed following the upper extremity functional evaluation standard, which was put forward by Hand Surgery Branch of Chinese Medical Association. And maryland foot functional score was used to evaluate foot function. RESULTS: Amputated fingers and flaps of all the 8 patients were survived. All patients were followed up for 4 to 20 months, their finger color and temperature tured to normal, with good wear-resistance and cold-resistance. According to Hand Surgery Branch of Chinese Medical Association, functional score ranged 61 to 92;4 patients got excellent result and 4 good. Maryland foot functional score ranged from 93 to 100;and 8 patients got excellent result. CONCLUSION It is feasible to repair severed fingers with soft tissue defects using polyfoliate free flaps that driven by the flippers of the first and second toes of the foot. This method ccould bridge blood vessels, increase soft tissue volume of the injured finger, and avoid finger shortening, with high patient satisfaction.
Male ; Humans ; Female ; Young Adult ; Adult ; Middle Aged ; Foot/surgery* ; Lower Extremity ; Surgical Flaps ; Toes ; Plastic Surgery Procedures

Humans ; Carcinoma, Verrucous/pathology* ; Carcinoma, Squamous Cell/pathology* ; Bone Neoplasms ; Toes/pathology* ; Skin Neoplasms/pathology*

Objective: To compare the effects between second toe tibial dorsal artery flap (2-TDAF) and second toe tibial plantar proper artery flap (2-TPPAF) in repairing finger skin and soft tissue defects. Methods: A retrospective cohort study was conducted. From January 2019 to June 2020, 27 patients with skin and soft tissue defects at the fingertips with area of 1.5 cm×1.2 cm-2.6 cm×1.8 cm after debridement who met the inclusion criteria were admitted to Suzhou Ruihua Orthopaedic Hospital, including 21 males and 6 females, aged 19-59 (37±10) years. According to flap repair methods used in the defective fingers, the patients were divided into 2-TDAF group (12 cases) and 2-TPPAF group (15 cases). The area of 2-TDAF ranged from 1.5 cm×1.2 cm to 2.5 cm×1.6 cm, and the area of 2-TPPAF ranged from 1.7 cm×1.3 cm to 2.6 cm×1.8 cm. Full-thickness skin grafts from the medial side of the ipsilateral leg were grafted to the wounds in donor sites, and the wounds in donor sites of skin grafts were directly sutured. Flap arterial diameter, flap excision time, flap survival situation of patients in 2 weeks after operation, and follow-up time were recorded. At the last follow-up, the two-point discrimination distance of flap graft site, total action motion (TAM) of the finger joints, and wound healing of the flap donor site were recorded; the Vancouver scar scale (VSS) was used to score the scar in donor area of the second toe and the recipient area of fingers; the appearance and self-satisfaction subscales of the Michigan hand outcomes questionnaire (MHQ) were used to evaluate the affected finger. Data were statistically analyzed with independent sample t test or Fisher's exact probability test. Results: The flap artery diameter of patients in 2-TDAF group was 0.35-0.80 (0.56±0.14) mm and the flap cutting time was (14.0±2.7) min, which were significantly shorter than 0.80-1.35 (1.02±0.16) mm and (19.7±3.4) min in 2-TPPAF group (with t values of 7.81 and 4.79, respectively, P<0.01). The flaps of patients in the 2 groups in recipient areas survived well in 2 weeks after operation, and the wounds in donor areas of flaps of patients in the 2 groups healed well at the last follow-up. There was no statistically significant difference in the postoperative follow-up time, and two-point discrimination distance of flap graft site, TAM of the finger joints, VSS score of scar in the second toe donor site and the finger recipient site, and the appearance and self-satisfaction of MHQ scores of the affected finger at the last follow-up (P>0.05). Conclusions: Compared with 2-TPPAF, 2-TDAF has a shallower anatomical layer and shorter time for surgical flap removal, which can preserve the proper arteries and nerves at the base of the toes and reduce the damage to the donor site.
Male ; Female ; Humans ; Soft Tissue Injuries/surgery* ; Finger Injuries/surgery* ; Cicatrix/surgery* ; Plastic Surgery Procedures ; Retrospective Studies ; Treatment Outcome ; Surgical Flaps ; Skin Transplantation ; Toes/surgery* ; Arteries ; Perforator Flap

OBJECTIVE: To explore clinical effect of the first metatarsophalangeal joint fusion combined with lateral toe rotation Weil osteotomy in treating hallux valgus with severe metatarsal adduction. METHODS: From March 2017 to August 2021, 37 patients ( 69 feet ) with severe plantar adductor hallux valgus were treated with the first metatarsophalangeal joint fusion combined with rotational Weil osteotomy were retrospectively analyzed, including 8 males(11 feet) and 29 females (58 feet), aged from 67 to 83 years old with an average of (70.03±2.87) years old;3 cases on the left side, 2 cases on the right side and 32 cases on both sides. Visual analogue scale(VAS) was used to evaluate degree of pain relief before operation, 6 weeks after operation and at the final follow-up. American Orthopaedic Foot and Ankle Surgery (AOFAS) forefoot score was used to evaluate function of the affected foot before operation and final follow-up. Hallux valgus angle(HVA) and intermetatarsal angle(IMA) were measured before operation and at the final follow-up. RESULTS: Thirty-seven patients(69 feet) were followed up from 12 to 48 months with an average of(22.8±0.6) months. Bone healing was achieved at the first metatarsophalangeal joint from 7 to 10 weeks with an average of (8.00±1.21) weeks after operation, without delay and nonunion. HVA was increased from (44.30±2.84)° before operation to (15.20±2.13) °at the final follow-up, and had statistical difference(t=65.781, P<0.05);while no difference in IMA before and after operation(P>0.05). VAS was decreased from (6.73±1.48) points to (2.78±0.71) points at 6 months after operation(t=3.279, P<0.05), and had difference compared with the latest follow-up(1.16±1.12)(t=4.859, P<0.05). AOFAS forefoot score increased from (52.14±5.78) preoperatively to (86.70±4.86) at the fonal follow-up, and 25 feet got excellent results, 40 feet good and 4 feet fair. CONCLUSION The first metatarsophalangeal joint fusion combined with lateral toe rotation Weil osteotomy in treating severe plantar adduction hallux valgus could significantly relieve pain and appearance of forefoot, stabilize the first sequence, and significantly improve walking function.
Male ; Female ; Humans ; Aged ; Aged, 80 and over ; Metatarsal Bones/surgery* ; Hallux Valgus/surgery* ; Retrospective Studies ; Rotation ; Treatment Outcome ; Osteotomy/methods* ; Metatarsophalangeal Joint/surgery* ; Bunion ; Toes

INTRODUCTION: Identifying peripheral arterial disease (PAD) during diabetic foot screening (DFS) is crucial in reducing the risk of diabetic foot ulcerations and lower limb amputations. Screening assessments commonly used include absolute systolic toe pressure (ASTP) and toe-brachial index (TBI). There is a lack of research defining the threshold values of both assessment methods. We aimed to compare the accuracy of ASTP and TBI and establish optimal threshold values of ASTP and TBI with reference to the internationally accepted ankle-brachial pressure index (ABPI) screening test, for a multiethnic diabetic population in Singapore. METHODS: A retrospective, observational study of DFS results from January 2017 to December 2017 was conducted. Receiver operating characteristic analysis was conducted for ASTP and TBI using the internationally accepted ABPI cut-off value of ≤0.9 to indicate PAD. RESULTS: A total of 1,454 patients with mean (standard deviation) age of 63.1 (12.4) years old were included. There were 50.8% men and 49.2% women, comprising 69.7% Chinese, 13.5% Indian, 10.1% Malay and 6.7% other ethnicities. Areas under the curve for ASTP and TBI were 0.89 (95% confidence interval [Cl] 0.85-0.94) and 0.94 (95% Cl 0.90-0.98), respectively, and the difference was statistically significant (P<0.001). Derived optimal threshold values to indicate ABPI≤0.9 for ASTP and TBI were <95.5mmHg (specificity 0.86, sensitivity 0.84) and <0.7 (specificity 0.89, sensitivity 0.95), respectively. CONCLUSION ASTP or TBI may be used to detect ABPI-determined PAD in DFS. The optimal threshold values derived from a multiethnic Asian diabetic population were <95.5mmHg for ASTP and <0.7 for TBI.
Ankle Brachial Index/methods* ; Diabetes Mellitus/epidemiology* ; Diabetic Foot/diagnosis* ; Female ; Humans ; Male ; Middle Aged ; Peripheral Arterial Disease/diagnosis* ; Retrospective Studies ; Toes

Objective: To explore the clinical effects of free hallux-nail flap combined with the second toe composite tissue flap in the reconstruction of damaged thumb after electrical burns. Methods: A retrospective observational study was conducted. From May 2018 to April 2021, 12 male patients with thumb destructive defects caused by electrical burns who met the inclusion criteria were admitted to Zhengzhou First People's Hospital, aged 27 to 58 years, including 10 cases with degree Ⅲ thumb defect and 2 cases with degree Ⅳ thumb defect after thorough debridement. The thumb was reconstructed with free hallux-nail flap combined with composite tissue flap of the second phalangeal bone, joint, and tendon with skin island. The donor site of hallux-nail flap was covered with artificial dermis in the first stage and performed with continuous vacuum sealing drainage, and covered with medium-thickness skin graft from the groin site in the second stage. The donor site in the second toe was filled and fixed with iliac bone strips. The survival of reconstructed thumb was observed 1 week after the reconstruction surgery, the survival of skin graft in the donor site of hallux-nail flap was observed 2 weeks after skin grafting, and the callus formation of the reconstructed thumb phalanx and the second toe of the donor foot was observed by X-ray 6 weeks after the reconstruction surgery. During the follow-up, the shape of reconstructed thumb was observed and the sensory function was evaluated; the function of reconstructed thumb was evaluated with trial standard for the evaluation of the functions of the upper limbs of the Hand Surgery Society of the Chinese Medical Association; whether the interphalangeal joints of the hallux and the second toe were stiff, the scar hyperplasia of the foot donor site, and whether the walking and standing functions of the donor feet were limited were observed. Results: One week after the reconstruction surgery, all the reconstructed thumbs of the patients survived. Two weeks after skin grafting, the skin grafts in the donor site of hallux-nail flap of 11 patients survived, while the skin graft in the donor site of hallux-nail flap of 1 patient was partially necrotic, which was healed completely after 10 days' dressing change. Six weeks after the reconstruction surgery, callus formation was observed in the reconstructed thumb and the second toe of the donor foot of 10 patients, the Kirschner wires were removed; while callus formation of the reconstructed thumb was poor in 2 patients, and the Kirschner wires were removed after 2 weeks of delay. During the follow-up of 6 to 24 months, the shape of reconstructed thumb was similar to that of the healthy thumb, the discrimination distance between the two points of the reconstructed thumb was 7 to 11 mm, and the functional evaluation results were excellent in 4 cases, good in 6 cases, and fair in 2 cases. The interphalangeal joints of the hallux and the second toe of the donor foot were stiff, mild scar hyperplasia was left in the donor site of foot, and the standing and walking functions of the donor foot were not significantly limited. Conclusions: The application of free hallux-nail flap combined with the second toe composite tissue flap in the reconstruction of damaged thumb after electrical burns adopts the concept of reconstruction instead of repair to close the wound. It can restore the shape and function of the damaged thumb without causing great damage to the donor foot.
Burns, Electric/surgery* ; Cicatrix/surgery* ; Free Tissue Flaps ; Hallux/surgery* ; Humans ; Hyperplasia ; Male ; Reconstructive Surgical Procedures/methods* ; Skin Transplantation/methods* ; Thumb/surgery* ; Toes/surgery* ; Treatment Outcome

OBJECTIVE: To analyze the clinical characteristics of 170 cases of macrodactyly. METHODS: Medical records of 170 macrodactyly patients at Beijing Jishuitan Hospital between March 2006 and October 2019, including demographic characteristics, clinical presentations, anatomical distributions, X-rays, pathological findings, and treatments, were reviewed. PIK3CA mutation analyses of 12 patients were also reviewed. RESULTS: Disease incidence was similar across sex and geographical regions. Multiple-digit involvement was 3.9 times more frequent than single-digit involvement. In upper deformit: ies, the index finger, middle finger and thumb were mostly involved, and the second and third toes were the most affected on the foot. Two digits were affected more often than three digits, with the affected multiple digits were adjacent most time. The cases of progressive macrodactyly, in which the affected digits grew at a faster rate than the unaffected digits, were found more than static type. Most of progressive macrodactyly were noticed at birth. In terms of nerve involvement, affected fingers mostly occurred in the median nerve innervation area (79.4%) accompanied by median nerve and brunches enlargement and fat infiltration, i.e., nerve territory oriented; affected toes mostly occurred in the medial plantar nerve innervation area (89.1%), marked with overgrowth of adipose tissue with a lesser degree of neural overgrowth, i.e., lipomatous. Only 17 cases had comorbid of syndactyly. The metacarpal bones were involved only in progressive type of macrodactyly. Ten of the 12 cases subjected to PIK3CA mutation analysis were positive. Among all tested specimens, PIK3CA mutation levels ranged from 7% to 27%. In terms of tissue sources in which a mutation was found, adipose tissue had the highest mutation detection rate, followed by nerve and skin. All the DNA samples of blood from the 12 PIK3CA mutation-positive patients were negative. CONCLUSION Macrodactyly fingers mostly occurred in the median nerve innervation area accompanied by median nerve and brunches enlargement and fat infiltration. The index and middle fingers were mostly involved. Macrodactyly toes mostly occurred in the medial plantar nerve innervation area, marked with overgrowth of adipose tissue with a lesser degree of neural overgrowth. The second and third toes were the most affected on the foot. A high proportion (83%) of isolated macrodactyly patients carry activating PIK3CA mutations. Adipose, nerve, and skin tissues provide the highest PIK3CA mutation detection yield among all types of tissue studied.
DNA Mutational Analysis ; Fingers/abnormalities* ; Humans ; Infant, Newborn ; Limb Deformities, Congenital ; Mutation ; Toes

CASE SUMMARY: A 51-year-old Filipino female without comorbidities presented with cough, rhinitis, and low-grade fever. Four days later, she developed pruritic, localized wheals on the arms, gradually involving the trunk and lower extremities. A 49-year-old Filipino female without comorbidities based in the Middle East presented with cough and fever. Four days after, she developed a generalized distribution of wheals and livedoid patches on both legs. Both patients recovered from COVID-19 with complete resolution of skin lesions. CONCLUSION: To the best of our knowledge, this is the first report of COVID-19 related dermatology cases collected in the Philippines.
Mucocutaneous Lymph Node Syndrome ; SARS-CoV-2 ; COVID-19 ; Administration, Cutaneous ; Exanthema ; Skin ; Virus Diseases ; Toes