Focal dermal hypoplasia syndrome

An 11-month-old female with focal dermal hypoplasia syndrome is described. Historically, the skin lesions were characterized by a marked decrease in dermal connective tissue. Ultrastructurally, there were a number of fine filamentous structures measuring 5 to 70 mn within and between the bundles of collagen; most of the dermal fibroblasts of the lesions possessed no remarkably developed rough endoplasmic reticulum and Golgi complex. Multilocular fat cells which are regarded as young fat cells were often seen. It is suggested that this disease may be characterized by a decreased rate of collagen synthesis by fibroblasts and an overgrowth of adipose tissue.     

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.     

局灶性真皮发育不全伴真皮上层弹性纤维溶解症

报告1例局灶性真皮发育不全伴真皮上层弹性纤维溶解症.患儿男,11个月.因全身出现红色丘疹和萎缩斑1 个月就诊.皮损沿Blaschko线分布,主要由毛细血管扩张、色素减退斑、萎缩斑和乳头状丘疹组成.此外,患儿还有右手中指和无名指并指畸形.皮损组织病理检查表现为表皮萎缩变薄,真皮上层水肿,毛细血管扩张.弹性纤维染色显示真皮上层的弹性纤维明显减少,而真皮中、下层的弹性纤维却基本正常.     

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.     

Focal dermal hypoplasia in a male patient due to mosaicism for a novel PORCN single nucleotide deletion

Background Focal dermal hypoplasia (FDH) is an X‐linked dominant disorder caused by nonsense mutations and deletions in the PORCN gene coding for a transmembrane endoplasmic reticulum protein required for Wingless signalling. Symptoms consist mainly of linear atrophic skin defects, skeletal deformities and, in many cases, mental retardation. Osteopathia striata is a nearly constant feature. Approximately 90% of patients are women. A few instances of father‐to‐daughter transmission and a number of sporadic male cases presumably as a result of somatic mosaicism have been recorded. Objectives The aim of this study was to demonstrate the presence of somatic mosaicism for PORCN mutations in a male patient. Methods We sequenced the PORCN gene in different tissues from a boy with symptoms of FDH. Results We demonstrate post‐zygotic mosaicism for a novel deletion in the PORCN gene. Conclusions A novel PORCN deletion, present in a post‐zygotic mosaic, causes focal dermal hyplasia in a male patient.     

Urogenital presentation of a male patient with focal dermal hypoplasia

Focal dermal hypoplasia (FDH) is a rare X-linked dominant syndrome characterized by streaky cutaneous atrophy in a blaschkoid distribution, skeletal dysplasias, and ocular abnormalities. Here, we report hypospadias and chordee identified in a male patient with molecularly confirmed FDH. This report highlights a new clinical manifestation of male patients with FDH.     

皮损形态类似于色素失调症的局灶性真皮发育不全

报告1 例皮损形态类似于色素失调症的局灶性真皮发育不全.患者女,30 岁.因全身条纹状和不规则形的色素斑近30 年就诊.皮损沿Blaschko 线分布,主要由色素沉着斑、色素减退斑和萎缩斑等组成.此外,患者还有右足第3 和第4 趾的并趾畸形.组织病理检查:真皮发育不良,明显变薄,皮下脂肪组织上移.弹性纤维染色显示真皮上层的弹性纤维明显减少,而真皮中、下层的弹性纤维却基本正常.临床上主要需与色素失调症鉴别.     

局灶性真皮发育不全综合征1例

患者女，19岁，临床表现为皮肤网状色素沉着，脂肪疝，乳头状瘤以及头颅，耳，牙齿，毛发，甲发育异常，上肢不对称，并指，脊椎裂，皮肤组织病理改变：表皮突消失，真皮胶原纤维减少，脂肪组织增生，诊断为局灶性真皮发育不全综合征。     

Focal dermal hypoplasia: report of a case with cutaneous and skeletal manifestations

Focal dermal hypoplasia is a rare genodermatosis characterized by developmental defects of the skin, resulting in widespread linear lesions of dermal hypoplasia with adipose tissue in the dermis. We describe a 13-year-old girl who has typical cutaneous lesions which have been present since birth; she also has some of the associated dental, nail and skeletal abnormalities, while an X-ray of the long bones osteopathia striata is visible, a feature seen in a high proportion of cases of focal dermal hypoplasia. Eighty-eight per cent of the case reports in the literature are of females and X-linked dominance is the likely mode of inheritance. It has also been proposed that the condition is lethal in homozygous males and the high frequency of miscarriages on the maternal side of this patient's family is consistent with that lethality in males. The literature, particularly with regard to pathogenesis and inheritance, is discussed.     

Melanocyte stimulation in focal dermal hypoplasia with unusual pigmented skin lesions: a histologic and immunohistochemical study

Focal dermal hypoplasia (FDH) or Goltz syndrome is a rare genodermatosis transmitted in a dominant, X-linked mode. It is characterized clinically by atrophic skin lesions, multiple mucocutaneous papillomas, hyperpigmented linear skin lesions, and several skeletal and visceral anomalies. We followed over several years a female patient with FDH, who had the characteristic atrophic cutaneous lesions and periorificial papillomas, who developed at the periphery of atrophic lesions peculiar lentigo-like pigmented macules. Immunohistologically, increased melanin deposits within the epidermis and the dermis were seen, produced by stimulated epidermal melanocytes expressing the HMB-45 antigen. These findings further support the contention that cutaneous lesions of FDH may be progressive, and provide a physiopathologic basis for understanding the hyperpigmented lesions of FDH.