Goltz syndrome and PORCN mosaicism

Goltz syndrome, also known as focal dermal hypoplasia, is characterized primarily by ectodermal and mesodermal defects. Manifestations include cutis aplasia, dermal hypoplasia, papillomas, chorioretinal colobomas, absent/dysplastic teeth, and skeletal anomalies. Goltz syndrome is an X‐linked disorder due to mutations in PORCN, with a predominance of females affected. Germline mutations in PORCN are thought to result in embryonically lethality in males. We present a boy with a phenotype consistent with Goltz syndrome with low‐level mosaicism for a novel mutation in PORCN from peripheral blood (c.956dupA; p.Asn320GlufsX99).     

Goltz综合征一例

患者,女,9岁。生后即见面部、躯干和四肢有多个红褐色斑、斑片及斑块,无自觉症状。部分线状或色素性斑沿Blaschko线分布,左小腿见数个脂肪性疝,肛周见多个乳头瘤状皮损,耳廓和牙齿畸形。组织病理示：真皮胶原纤维和弹力纤维缺如。根据临床和组织病理学表现诊断为Goltz综合征。     

Revisiting histopathologic findings in Goltz syndrome

Goltz syndrome (focal dermal hypoplasia) is an X‐linked dominant disorder that is classically associated with yellowish papules representing fat herniation (superficial adipocytes). We report a series of three cases, with clinicopathologic correlation of biopsies from Blaschkoid streaks. A range of histopathologic features, including some underreported findings (increased papillary dermal blood vessels, decreased thickness of the dermis, and adipocytes high in the dermis), are reproducible and can strongly point to the correct diagnosis of Goltz syndrome.     

Focal dermal hypoplasia (Goltz syndrome)

A 7-year-old girl born of non-consanguineous marriage was evaluated for facial dysmorphism. She had multiple skeletal anomalies like hypoplasia of the right mandible, narrow nasal bridge with broad tip and unilateral notching of the right ala nasi, concomitant squint and low set ears. She also had generalized hypopigmented, atrophic linear macules, multiple papillomas, fat herniations, umbilical hernia, hypoplastic nails, cicatricial alopecia, mild mental retardation, 'lobster-claw' hand and osteopathia striata of long bones, pointing to a diagnosis of Goltz syndrome. The unusual features noted were absence of the left first rib and aortic regurgitation.     

Case of unilateral focal dermal hypoplasia (Goltz syndrome)

Focal dermal hypoplasia (FDH) is a rare multisystem condition in which developmental defects of the skin are associated with ocular, dental and skeletal abnormalities. Herein, we report an 8-year-old girl with FDH. Her body halves were asymmetric and she had linear cutaneous atrophy with yellow nodules on her extremities. Syndactylies of the third and fourth fingers of the right hand and second and third toes of the right foot were also observed. Histological examination revealed dermal hypoplasia and upward extension of the adipose tissue. Based on these observations, she was diagnosed with unilateral FDH.     

Three cases of focal dermal hypoplasia (Goltz syndrome)

Focal dermal hypoplasia or Goltz syndrome is a rare genodermatosis, characterized by multiple abnormalities of ectodermal and mesodermal origin. It is found predominantly in females and is characterized by hypoplasia of skin and papillomas. Three cases of focal dermal hypoplasia in infancy with unusual inheritance patterns are reported. Cutaneous features were atrophic reticulated scars involving the trunk and extremities following the lines of Blaschko. Papillomas were present on the genitalia and in a periorificial distribution. Skeletal abnormalities included syndactyly, polydactyly and lobster claw deformities. Ophthalmological examination revealed strabismus and retinal colobomas.     

Histopathological study of focal dermal hypoplasia (Goltz syndrome)

We report a case of focal dermal hypoplasia, or Golz syndrome in a 13-year-old girl. The patient presented with a variety of cutaneous defects, including atrophy-like depressions, striations, a verrucous papilloma, and lipomas. Histopathological examination showed deposits of fat cells or adipose tissue in the dermis, which were subepidermal, mid-dermal, perivascular, or involved the whole dermis. These findings indicate that the adipose tissue in the dermis is a result of dermal dysplasia and not hypoplasia.     

Osteochondroma of humerus in focal dermal hypoplasia (Goltz) syndrome

Focal dermal hypoplasia (Goltz) syndrome was diagnosed in a 26-year-old female subject and her 5-year-old daughter. The mother had been treated surgically for syndactyly in early childhood, and at the age of 12 years had developed a large osteochondroma of the proximal humerus. This is a further bone tumour which should be added to the skeletal manifestations of this syndrome.     

Focal dermal hypoplasia (Goltz syndrome) associated with multiple giant papillomas

We report a case of focal dermal hypoplasia (FDH) with multiple giant papillomas on nonperimucosal areas. The patient had had cribriform hyperpigmented and depigmented plaques on the trunk and extremities since birth. There were also hypoplastic skin lesions on the right arm, left elbow and right thigh. The multiple giant papillomas began to appear. when she was 22 years old, on the trunk and extremities. Cryotherapy was effective in controlling them.     

新生儿Goltz综合征PORCN基因新发突变一例

目的 报道1例新生儿Goltz综合征及PORCN基因新发突变位点.方法 回顾性分析1例Goltz综合征新生儿的临床资料,采集患儿及父母外周静脉血,提取基因组DNA,全外显子组测序筛查患儿致病基因,Sanger测序法验证突变基因.结果 患儿女,出生后7h因头皮缺损、面部、双膝关节内侧多发表皮缺损、左耳廓畸形、右手中指无名...     

A case of mosaic Goltz syndrome (focal dermal hypoplasia) in a male patient

We present the case of a boy with a clinical diagnosis of Goltz (focal dermal hypoplasia) syndrome. This is a rare genodermatosis characterized by widespread dysplasia of mesodermal and ectodermal tissues. It is inherited in an X-linked dominant fashion and is normally lethal in male patients. Mutations in the PORCN gene (Xp11.23), the proteins of which are key regulators in embryonic development, have been found to be responsible for the syndrome. Sequencing of the PORCN gene was negative in our patient. This case highlights some of the challenges of obtaining a molecular diagnosis in male patients with suspected Goltz syndrome in the clinical setting.