Focal dermal hypoplasia, caused by mutations in PORCN, is an X-linked ectodermal dysplasia, also known as Goltz syndrome. Only seven cases of unilateral or almost unilateral focal dermal hypoplasia have been reported in the English literature and there have been no previously reported cases in the Republic of Korea. A 19-year-old female presented with scalp defects, skin lesions on the right leg and the right trunk, and syndactyly of the right fourth and fifth toes. Cutaneous examination revealed multiple atrophic plaques and a brown and yellow mass with fat herniation and telangiectasia that was mostly located on the lower right leg. She had syndactyly on the right foot and the scalp lesion appeared to be an atrophic, membranous, fibrotic alopecic scar. A biopsy of the calf revealed upper dermal extension of fat cells, dermal atrophy, and loss of dermal collagen. A diagnosis of almost unilateral focal dermal hypoplasia was made on the basis of physical and histologic findings. Henceforth, the patient was referred to a plastic surgeon and an orthopedics department to repair her syndactyly.
Adipocytes ; Atrophy ; Biopsy ; Cicatrix ; Collagen ; Diagnosis ; Ectodermal Dysplasia ; Female ; Focal Dermal Hypoplasia* ; Foot ; Humans ; Leg ; Orthopedics ; Plastics ; Republic of Korea ; Scalp ; Skin ; Syndactyly ; Telangiectasis ; Toes ; Young Adult

Focal dermal hypoplasia, caused by mutations in PORCN, is an X-linked ectodermal dysplasia, also known as Goltz syndrome. Only seven cases of unilateral or almost unilateral focal dermal hypoplasia have been reported in the English literature and there have been no previously reported cases in the Republic of Korea. A 19-year-old female presented with scalp defects, skin lesions on the right leg and the right trunk, and syndactyly of the right fourth and fifth toes. Cutaneous examination revealed multiple atrophic plaques and a brown and yellow mass with fat herniation and telangiectasia that was mostly located on the lower right leg. She had syndactyly on the right foot and the scalp lesion appeared to be an atrophic, membranous, fibrotic alopecic scar. A biopsy of the calf revealed upper dermal extension of fat cells, dermal atrophy, and loss of dermal collagen. A diagnosis of almost unilateral focal dermal hypoplasia was made on the basis of physical and histologic findings. Henceforth, the patient was referred to a plastic surgeon and an orthopedics department to repair her syndactyly.
Adipocytes ; Atrophy ; Biopsy ; Cicatrix ; Collagen ; Diagnosis ; Ectodermal Dysplasia ; Female ; Focal Dermal Hypoplasia* ; Foot ; Humans ; Leg ; Orthopedics ; Plastics ; Republic of Korea ; Scalp ; Skin ; Syndactyly ; Telangiectasis ; Toes ; Young Adult

OBJECTIVE: To report a case of unilateral tonsillar hypertrophy resulting in severe Obstructive Sleep Apnea in a 4-year-old girl with focal dermal hypoplasia (FDH, Goltz or Goltz-Gorlin) Syndrome.
METHODS:
Design: Case Report
Setting: Tertiary Private Teaching Hospital
Patient: One
RESULTS: A 4-year-old girl with Goltz Syndrome (classical features of cutaneous and osteopathic disorders since birth) and unilateral tonsillar hypertrophy manifested with snoring and apneic episodes at two years of age. Polysomnography revealed severe Obstructive Sleep Apnea and Arterial Blood Gases revealed metabolic acidosis with hypoxemia. A tonsillectomy and adenoidectomy improved breathing, appetite and sleep with resolution of snoring and apneic spells and final tonsil histopathology revealed lymphoepithelial polyp.
CONCLUSION: A 4-year-old child with Goltz syndrome who developed severe obstructive sleep apnea due to tonsillar hypertrophy was presented. Otolaryngologists should be aware of this syndrome which may manifest with oral and mucosal lesions. Although rare, Goltz syndrome may be considered in the differential diagnosis of tonsillar hypertrophy especially in the presence of the inherent clinical features. Physicians should educate patients and address the co-morbidities associated with it through individualized treatment.

Human ; Female ; Child Preschool ; Adenoidectomy ; Palatine Tonsil ; Tonsillectomy ; Polysomnography ; Focal Dermal Hypoplasia ; Diagnosis, Differential ; Sleep Apnea, Obstructive ; Hypoxia

Goltz syndrome is a rare congenital disorder characterized by ectodermal and mesodermal dysplasia with multisystem defects. It was first reported in 1962 by Goltz as a focal dermal hypoplasia. More than 200 cases of Goltz syndrome were reported in the world literature, and 5 cases have been reported in Korea since 1994. There were few descriptions in the literature regarding surgical experience in Goltz syndrome. We report a female neonate born with omphalocele associated with Goltz syndrome that included typical cutaneous manifestations and a lobster-claw defect of the left foot. Omphalocele was successfully closed by staged reduction without any wound problems.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Ectoderm ; Female ; Focal Dermal Hypoplasia* ; Foot ; Hernia, Umbilical* ; Humans ; Infant, Newborn ; Korea ; Mesoderm ; Wounds and Injuries

OBJECTIVETo detect the mutation of PORCN gene in a patient with focal dermal hypoplasia and study the genotype-phenotype correlation.

METHODSPeripheral blood samples were obtained from the family members and control subjects. PCR was carried out to amplify all the exons and adjacent splice sites of PORCN gene and mutation was detected by bidirectional sequencing.

RESULTSA G149C mutation was found at exon 2 of the PORCN gene in the patient, which caused a change from Alanine to Proline at codon 38 (A38P). The patient presented mild clinical manifestations.

CONCLUSIONA new missense mutation (A38P) in the PORCN was detected in the patient, which maybe one of the molecular mechanisms in the pathogenesis of the disease. The relationship between G149C genotype and moderate phenotype might be attributed to the influence of A38P missense mutation towards the corresponding protein, which is different from previous results.

Acyltransferases ; Base Sequence ; Child ; DNA Mutational Analysis ; Female ; Focal Dermal Hypoplasia ; genetics ; pathology ; physiopathology ; Humans ; Membrane Proteins ; genetics ; Mutation ; genetics

Goltz syndrome or focal dermal hypoplasia, is a rare genodermatosis, characterized by multiple abnormalities of mesodemal and ectodermal organs. Cutaneous manifestations include linear or cribriform atrophied patches with telangiectasia following Blaschko line and papillomas. The majority of patients also have skeletal abnormalities, such as syndactyly, oligodactyly, scoliosis, and short stature. Furthermore, various ophthalmic and dental manifestations have been reported. We report a case of Goltz syndrome occurring in a 2-year old female with asymptomatic erythematous atrophic patches with purpuric macules and telangiectasia mainly on extremities. She also had hypotrichia on vertex and a notching-like cleft on upper lip. A skin biopsy performed on her atrophic patch on the leg revealed dermal hypoplasia. The final diagnosis was made by typical cutaneous manifestations and histopathological findings compatible with focal dermal hypoplasia.
Abnormalities, Multiple ; Biopsy ; Ectoderm ; Extremities ; Female ; Focal Dermal Hypoplasia ; Humans ; Leg ; Lip ; Papilloma ; Scoliosis ; Skin ; Syndactyly ; Telangiectasis

Goltz syndrome(focal dermal hypoplasia) is a rare disorder characterized by ectodermal and mesodermal dysplasia described in 1962 by Goltz. In Korea, one case of Goltz syndrome was reported in 1994. The inheritance mode is mostly X-linked dominant. Skin abnormality is the most common manifestation including hypoplasia of the dermis. Skeletal involvement such as syndactyly, polydactyly, scoliosis, kyphosis and spina bifida occulta may be present, also ocular and dental abnormalities are reported. Radiologic findings are the osteopathy and striation of the long bone. We experienced a case of Goltz syndrome in a 9-year old female who was presented with right side hypotrophy, focal dermal hypoplasia, ocular(anidria, microcornea), dental(oligodontia, amelogenesis) and skeletal(syndactyly) abnormalities. Skin biopsy was performed and showed decreased expression of type I collagen gene with Northern blotting.
Biopsy ; Blotting, Northern ; Child ; Collagen Type I ; Dermis ; Ectoderm ; Female ; Focal Dermal Hypoplasia* ; Humans ; Korea ; Kyphosis ; Mesoderm ; Polydactyly ; Scoliosis ; Skin ; Skin Abnormalities ; Spina Bifida Occulta ; Syndactyly ; Wills

Focal dermal hypoplasia or Goltz syndrome is a rare genetic mesodermal and ectodermal disorder characterized by variable multisystem defects, including anomalies of the skin, skeleton, teeth and eyes. The disorder appears to be lethal in males and there is a large dominance of female cases; hence, X-linked dominant inheritance has been postulated. A 10-year-old female patient presented with soft extruding nodules on the hyperpigmented patch on the right leg, reticulated hyperpigmentd patches and plaques scattered over the trunk and extremities, and focal alopecia on the scalp. In addion to the skin lesions, this patient showed syndactyly of the right 2nd, 3rd fingers and 4th, 5th fingers, developmental anomaly of the right foot including syndactyly and hypoplasia of the toes, hemiatrophy of the right side of the face, and irregular spacing of teeth and malocclusion. Histopathological findings of soft pinkish nodule on the right leg revealed very thin layered collagen fibers on the dermis and presence of adipose tissue very near to the epidermis that largely replaced the upper dermis.
Adipose Tissue ; Alopecia ; Child ; Collagen ; Dermis ; Ectoderm ; Epidermis ; Extremities ; Female ; Fingers ; Focal Dermal Hypoplasia* ; Foot ; Humans ; Leg ; Male ; Malocclusion ; Mesoderm ; Scalp ; Skeleton ; Skin ; Syndactyly ; Toes ; Tooth ; Wills

Goltz syndrome is known as a rare mesoectodermal hereditary disease, characterized by focal dermal atrophies with hernias of adipose tissue and also associated with a multitude of possible skeletal, dental, ophthalmological and other abnormalities. We experienced a case of Goltz syndrome. An one day old female newborn had focal atrophic and telangiectatic skin lesions, microphthalmia, syndactyly and urinary tract abnormality. The finding of skin biopsy was consistent with focal dermal hypoplasia. We report the case with a brief review and related literatures.
Adipose Tissue ; Atrophy ; Biopsy ; Female ; Focal Dermal Hypoplasia* ; Genetic Diseases, Inborn ; Hernia ; Humans ; Infant, Newborn ; Microphthalmos ; Skin ; Syndactyly ; Urinary Tract

We report a case of focal dermal hypoplasia associated with ichthyosis in an 18-year-old Korean female. The patient showed a yellowish atrophic patch on the left side of her abdomen, abnormal skin pigmentation, nail dystrophy and ichthyosis since birth.We could also find skeletal and dental deformities. The biopsy specimen obtained from the yellowish atrophic patch showed marked attenuation of collagen fibers and ectopic fatty tissue nearly reaching up to the upper dermis.
Abdomen ; Adipose Tissue ; Adolescent ; Biopsy ; Collagen ; Congenital Abnormalities ; Dermis ; Female ; Focal Dermal Hypoplasia* ; Humans ; Ichthyosis* ; Skin Pigmentation