Macrodystrophia lipomatosa is a congenital macrodactyly characterized by progressive overgrowth of all the mesenchymal elements of a digit or digits with a disproportionate increase in the fibroadipose tissue. We reported a case of macrodystrophia lipomatosa of the foot, which is a rare case, and reviewed the literatures.
Fingers ; Foot ; Limb Deformities, Congenital

Acromegaloid facial appearance (AFA) syndrome is a rare autosomal dominant disease, consisting of an acromegaloid face, a bulbous nose, and narrowing of the palpaebral fissure. In 1996, Irvin first reported a case of a combination of acromegaloid facial appearance syndrome and congenital hypertrichosis, and reported this case as a new disease of acromegaloid facial appearance with generalized hypertrichosis terminalis, which is differentiated from both AFA syndrome and congenital hypertrichosis/gingival hyperplasia. We report herein the first Korean case of acromegaloid facial appearance with generalized hypertrichosis terminalis.
Acromegaly ; Hyperplasia ; Hypertrichosis ; Limb Deformities, Congenital ; Nose

Vertebral anomalies-anal atresia-cardiac abnormalities-tracheoesophageal fistula-renal agenesis-limb (VACTERL) defects association is a rare congenital disease. While most scientific literature focus on the clinical presentation and management of pediatric patients with this condition, this paper focuses on the challenges faced by a 22-year-old primigravid, who was able to carry a pregnancy to term, despite the many anomalies associated with being afflicted with VACTERL.
Humans ; Tracheoesophageal Fistula ; VACTERL association ; Limb Deformities, Congenital

OBJECTIVETo explore the genetic etiology of three families affected with split-hand/split-foot malformation (SHFM).

METHODSPeripheral venous blood samples from 21 members of pedigree 1, 2 members of pedigree 2, and 2 members of pedigree 3 were collected. PCR-Sanger sequencing, microarray chip, fluorescence in situ hybridization (FISH), real-time PCR, and next-generation sequencing were employed to screen the mutations in the 3 families. The effect of the identified mutations on the finger (toe) abnormality were also explored.

RESULTSMicroarray and real-time PCR analysis has identified a duplication in all patients from pedigrees 1 and 3, which have spanned FKSG40, TLX1, LBX1, BTRC, POLL and FBXW4 (exons 6-9) and LBX1, BTRC, POLL and FBXW4 (exons 6-9) genes, respectively. A missense mutation of the TP63 gene, namely c.692A>G (p.Tyr231Cys), was found in two patients from pedigree 2. FISH analysis of chromosome 10 showed that the rearrangement could fita tandem duplication model. However, next-generation sequencing did not identify the breakpoint.

CONCLUSIONThe genetic etiology for three families affected with SHFM have been identified, which has provideda basis for genetic counseling and guidance for reproduction.

Chromosomes, Human, Pair 10 ; genetics ; Female ; Foot Deformities, Congenital ; genetics ; Genetic Testing ; Hand Deformities, Congenital ; genetics ; Humans ; Limb Deformities, Congenital ; genetics ; Male ; Mutation ; genetics ; Pedigree

Adams-Oliver syndrome (AOS) is a congenital condition characterized by aplasia cutis congenita, transverse limb defects, and cutis marmorata telangiectatica. AOS can also be associated with extensive lethal anomalies of internal organs, including the central nervous, cardiopulmonary, gastrourointestinal, and genitourinary systems. Generally, the more severe these interrelated anomalies are, the poorer the prognosis becomes. In the relevant literature on this topic, it is somewhat unclear as to whether the prognosis of AOS without lethal anomalies alters the lifespan. We report a case of AOS with typical skin defects only, and no internal organ anomalies.
Ectodermal Dysplasia ; Extremities ; Limb Deformities, Congenital ; Prognosis ; Scalp Dermatoses ; Skin ; Urogenital System

Macrodystrophia lipomatosa (MDL) is a rare congenital non-hereditary disorder that has significant impact on patient morbidity. This study provides a comprehensive review of the natural history, diagnosis, management, and outcomes of the disorder. A literature search in PubMed was conducted to identify cases of MDL from January 1950 to 14 February 2014. After ruling out articles without information related to the management of the disorder, a summary of 32 studies was performed. An additional three cases from the authors are also presented. Based on 57 journal articles and three additional cases from the authors, around 108 cases of MDL were reviewed. Most patients were males who were admitted to a treatment clinic in the first four years of life. The lower extremities were more frequently affected, with unilateral presentation being most common. They commonly underwent a single-staged surgical procedure with follow-up periods ranging from more than one year up to 21 years. Out of 43 cases that underwent surgical procedures, 13 reported no complications, and there were seven cases of esthetic satisfaction and 15 cases of significant functional improvement. Depending on the severity of a patient's condition, the use of non-invasive diagnostic tools should be carefully considered. Surgery might be a better choice of management than observation, taking into account possible future complications in the absence of surgery and the beneficial outcomes of surgical procedures.
Diagnosis ; Fingers ; Follow-Up Studies ; Humans ; Limb Deformities, Congenital ; Lower Extremity ; Male ; Natural History ; Upper Extremity

Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome is a rare X-linked dominant and male-lethal multi-system disorder characterized by congenital hemidysplasia, strictly lateralized ichthyosiform nevus and ipsilateral limb defects. CHILD syndrome is caused by mutations of nicotinamide adenine dinucleotide phosphate steroid dehydrogenase-like protein (NSDHL) gene mapped to chromosome Xq28. The gene encodes 3β-hydroxylsterol dehydrogenase, which catalyses a step in the cholesterol biosynthetic pathway. This paper has provided a review for recent progress in research on CHILD syndrome including its clinical aspects, pathology, etiology, pathogenesis, differential diagnosis, and treatment, with a particular emphasis on its treatment..
Abnormalities, Multiple ; genetics ; Genetic Diseases, X-Linked ; genetics ; Humans ; Limb Deformities, Congenital ; genetics ; Nevus ; genetics ; Syndrome

There are many different type of congenital toe anomalies such as syndactyly, polydactyly which are more common, and less frequently macrodactyly and curly toe. Congenital anomaly of hand can decrease the hand function and easy to be visualized, so the early treatment of anomaly is natural and recommended. On the other hand, Congenital anomaly of foot rarely decrease the foot function and was hidden in the shoe, so treatment of anomaly was delayed frequently. However, the surgery can be needed, as the foot getting grown-up, discomfort of shoe fitting or intractable plantar keratosis due to secondary deformation of foot can occur. A distinct feature and surgical consideration was compared with congenital anomaly of hand and it should be taken into account in the treatment of adult toe anomalies.
Adult ; Fingers ; Foot ; Hand ; Humans ; Keratosis ; Limb Deformities, Congenital ; Polydactyly ; Shoes ; Syndactyly ; Toes

Child, Preschool ; Chromosomes, Human, Y ; Humans ; Karyotyping ; Limb Deformities, Congenital ; diagnosis ; genetics ; Male ; Pedigree ; Phenotype

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