Focal Dermal Hypoplasia with Exuberant Fat Herniations and Skeletal Deformities

Mianda, Sandra Bitencourt; Delmaestro, Délio; Bertoli, Renildes; Marinho, Tânia; Lucas, Elton Almeida

doi:10.1111/j.1525-1470.2005.00106.x

Cited by 19 publications

(8 citation statements)

References 23 publications

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“…3,4 It is characterized primarily by extensive cutaneous abnormalities, including fat herniating through dermal defects and forming hyperpigmented papillomas. 5 A comprehensive review of the literature in 1992 identified 200 cases worldwide and expanded the clinical syndrome to include malformations of the ocular, craniofacial, and musculoskeletal systems.…”

Section: Discussionmentioning

confidence: 99%

Congenital Anomalies of the Female Reproductive Tract in a Patient with Goltz Syndrome

Reddy

Laufer

2009

Journal of Pediatric and Adolescent Gynecology

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Section: Discussionmentioning

confidence: 99%

Congenital Anomalies of the Female Reproductive Tract in a Patient with Goltz Syndrome

Reddy

Laufer

2009

Journal of Pediatric and Adolescent Gynecology

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“…Abdominal wall defects, diaphragmatic hernias and renal abnormalities have also been reported. Histology is characterised by markedly thinned dermis 2 3. The genetic defect has been identified as mutation in PORCN gene (Xp11.23) 4.…”

Section: Discussionmentioning

confidence: 99%

Goltz syndrome: a rare case of father-to-daughter transmission

et al. 2016

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An 8-year-old girl presented to us with skin-coloured to yellowish soft compressible papules, intermixed with hypopigmented and hyperpigmented macules in a Blaschkoid pattern, and 'lobster-claw deformity' affecting her bilateral feet. Additional examination findings included short stature, facial asymmetry, low-set ears, hypodontia, enamel hypoplasia, tonsillar enlargement and spina-bifida occulta at S1-3 vertebral level. A diagnosis of Goltz syndrome was suspected clinically, which was confirmed on skin biopsy. Her father also had hypopigmented and hyperpigmented macules in a Blaschkoid distribution, 'lobster-claw' deformity and kyphoscoliosis. None of the other family members were affected.

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“…These nodules were the herniation of adipose cells through dermal defects and nodules will become lipomatous tumors (Miranda et al, 2005). This finding has been referred to as "fat herniation" and reported in more than %50 of cases.…”

Section: Discussionmentioning

confidence: 99%

Goltz Syndrome (Focal Dermal Hypoplasıa) Wİth Exuberant Fat Herniations, Syndactyly, Papillomas, Skin Defects, Eye Involvement and False Positive Anti HIV Serology

PANCAR¹,

ŞENTÜRK²,

Aydın³

2010

jecm

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Goltz Syndrome (Focal Dermal Hypoplasia) is a rare congenital mesoectodermal dysplasia with multisystemic involvement. It was first described by Goltz in 1962 and more than 200 cases reported worldwide (Leite et al., 2005). Skin lesions are characterized by athrophic, hyperpigmented linear or reticulated macules, multiple mucocutaneous papillomas, fat herniations or fat tumors. Besides the skin, other structures frequently involved are the skeletal system, eyes, teeth, hair, nails and central nervous system (Kanitakis et al., 2003). The association between Goltz syndrome and anti-HIV serology was not found in the literature. We report 32 year-old woman with typical cutaneous leisons of Goltz Syndrome associated with false positive anti-HIV serology and secondary infertility.J. Exp. Clin. Med., 2010; 27:123-125 Journal of Experimental and Clinical MedicineDeneysel ve Klinik Tıp Dergisi ARTICLE INFO ABSTRACT© 2010 OMU All rights reserved Case ReportA 32 year old woman was evaluated for facial dysmorphism, poikilodermic skin lesions, multiple verrucous and papillomatous lesions of the perivulvar region, short stature and kyphoscoliosis causing functional and esthetic discomfort. In her history, she had one abortus in the past, since then she could not become pregnant and had been followed up because of the secondary infertility. She was the seventh child of the non relative parents. She has five sisters and a brother all of whom were healthy. She also had three sisters died of unknown aetiology when they were under age of five.On physical examination she had sparse hair, recession of the frontal hair line and patchy areas of cicatricial alopecia with facial asymmetry. The right mandible was hypoplastic and the nasal bridge was narrow with a broad tip and unilateral notching of right ala nasi, she had low set ears and a triangular-shaped face due to the hypoplastic right orbital region, micrognathia and microdentia.She had anophthalmia on the right side. Her right eye was enucleated at another hospital with an unknown reason. The eyelids were irregularly shaped and could not be closed completely. Ophtalmologic examination of the left eye revealed choroid coloboma (Fig. 1).Her teeth were hypoplastic, anodontic, irregularly spaced, inclined to decay and upper incisors were notched. Multiple milimetric papillomas on the gingiva were noticed. Examination of the lower extremity revealed partial syndactyly between the different toes of right and left feet.Cutaneous examination showed multiple atrophic, pigmented linear streaks and poikiloderma on the trunk and extremities along the lines of blaschko and telangiectasias with atrophic depressions observed on the back of the patient (Fig. 2). Soft yellowish, lipomatous nodules projecting through localized areas of skin atrophy were noticed on shoulders -flanks and legs .Histologic examination of the papillomatous inguinal lesion showed acanthosis and papillomatosis overlaid by thickened, partially parakeratotic stratum corneum. Also lipomatous nodule of the infrapatellar...

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Focal Dermal Hypoplasia with Exuberant Fat Herniations and Skeletal Deformities

Cited by 19 publications

References 23 publications

Congenital Anomalies of the Female Reproductive Tract in a Patient with Goltz Syndrome

Congenital Anomalies of the Female Reproductive Tract in a Patient with Goltz Syndrome

Goltz syndrome: a rare case of father-to-daughter transmission

Goltz Syndrome (Focal Dermal Hypoplasıa) Wİth Exuberant Fat Herniations, Syndactyly, Papillomas, Skin Defects, Eye Involvement and False Positive Anti HIV Serology

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