scholarly journals A Case of Male Goltz Syndrome

2012 ◽  
Vol 2012 ◽  
pp. 1-3 ◽  
Author(s):  
Bhaswati Ghoshal ◽  
Subhrajit Lahiri ◽  
Debabrata Nandi
Keyword(s):  
Mental Retardation ◽  
Clinical Diagnosis ◽  
Male Patient ◽  
Index Case ◽  
Skin Lesions ◽  
Focal Dermal Hypoplasia ◽  
Goltz Syndrome ◽  
Male Patients ◽  
Typical Skin

We present the case of a boy with a clinical diagnosis of Goltz syndrome (focal dermal hypoplasia), a rare genodermatosis characterized by widespread dysplasia of mesodermal and ectodermal tissues. A 9-year-old male patient with Goltz syndrome presented with typical skin lesions along with progressive dimness of vision and mental retardation since birth. It is inherited in an X-linked dominant fashion and is normally lethal in male patients, and so very few male patients, like the index case, have been reported.

scholarly journals A Case of Familial Focal Dermal Hypoplasia: A Report of 3 Cases in Consecutive Generations

2018 ◽  
Vol 2 (5) ◽  
Author(s):  
David Ernesto Castillo ◽  
Nicole Nagrani ◽  
David Castillo ◽  
Rocio Reyes Muñoz ◽  
Mayerlis Cárdenas Guevara ◽  
...  
Keyword(s):  
Skin Lesions ◽  
Dominant Inheritance ◽  
Multisystem Disorder ◽  
Enamel Defects ◽  
Focal Dermal Hypoplasia ◽  
Uncommon Presentation ◽  
Goltz Syndrome ◽  
The Right ◽  
Blaschko’S Lines ◽  
Musculoskeletal Systems

Focal dermal hypoplasia (FDH), or Goltz syndrome, is a rare multisystem disorder affecting mesodermal and ectodermal structures, with the skin, eyes, teeth, and musculoskeletal systems most commonly affected. FDH results from mutations in the PORCN gene. Ninety-five percent of cases arise from novo mutations, whereas 5% are hereditary with an X-linked dominant inheritance pattern. Here, we describe an uncommon presentation of FDH in three consecutive generations. Patient 1 is an 8-month-old female born of non-consanguineous marriage who presented with diffuse alopecia of the scalp, linear hypopigmented, atrophic papules, and plaques with peripheral hyperpigmentation on the left hemiabdomen and right lateral leg along Blaschko's lines as well as syndactyly of the right second and third toes. Skin biopsy from the abdomen showed a thin epidermis with flattened rete ridges and massive dermal edema within collagen fibers and reactive capillaries. Family history was significant for similar skin lesions and bone deformities in her mother and similar skin lesions in her grandmother. Patient 2 (patient 1’s mother) is a 17-year-old female with similar linear hypopigmented, atrophic plaques with peripheral hyperpigmentation on the abdomen and right axilla, syndactyly of the right hand, patchy alopecia of the scalp, microdontia, teeth fusion, enamel defects, verrucous papillomas in the axillae and onycholysis. Patient 3 (patient 1’s grandmother), presented with similar hypopigmented, atrophic plaques on the abdomen and left arm.

scholarly journals An Unexpected Airway Complication in a Male Patient with Goltz Syndrome

2016 ◽  
Vol 2016 ◽  
pp. 1-3 ◽  
Author(s):  
Sadie Smith ◽  
Kavita Gadhok ◽  
Dmitri Guvakov
Keyword(s):  
Central Nervous System ◽  
Male Patient ◽  
Perioperative Management ◽  
Genetic Disorder ◽  
Airway Complication ◽  
Airway Complications ◽  
Focal Dermal Hypoplasia ◽  
Goltz Syndrome ◽  
Tissue Abnormalities ◽  
Adult Male Patient

Goltz syndrome, also known as focal dermal hypoplasia, is a rare X-linked dominant multisystem syndrome presenting with cutaneous, skeletal, dental ocular, central nervous system and soft tissue abnormalities. This case report discusses an adult male patient with Goltz syndrome that was noted to have large, papillomatous, hypopharyngeal lesions upon induction of general anesthesia. We highlight challenges with airway management intraoperatively and postoperatively in patients with Goltz syndrome. Our aim is to increase awareness of the potential airway complications associated with this genetic disorder and to provide suggestions for optimal perioperative management for patients afflicted with Goltz syndrome.

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

2011 ◽  
Vol 52 (1) ◽  
pp. 48-51 ◽  
Author(s):  
Anita L Lasocki ◽  
Zornitza Stark ◽  
David Orchard
Keyword(s):  
Male Patient ◽  
Focal Dermal Hypoplasia ◽  
Goltz Syndrome

CLINICAL CASE OF FOCAL DERMAL HYPOPLASIA (GOLTZ SYNDROME)

2020 ◽  
Vol 99 (6) ◽  
pp. 283-286
Author(s):  
S.N. Shchava ◽  
◽  
T.E. Zayachnikova ◽  
E.A. Serdjukova ◽  
E.E. Shipovskova ◽  
...  
Keyword(s):  
Optic Nerve ◽  
Genetic Disease ◽  
Clinical Case ◽  
Genetic Disorders ◽  
Clinical Manifestations ◽  
Skin Lesions ◽  
Molecular Testing ◽  
Focal Dermal Hypoplasia ◽  
Goltz Syndrome ◽  
Newborn Child

The article presents a clinical case of a rare genetic disease in a newborn child – focal dermal hypoplasia (FDH), or Goltz syndrome. This disease primarily affects females. The girl was born into a family with a 4-year-old healthy daughter. There were no genetic disorders or kinship in family history. The article reviews a variety of clinical manifestations of FDH including skin lesions, skeletal (syndactyly) and eye abnormalities (retinal and chorioids coloboma, dystrophy of the optic nerve). It also presents genetic and molecular testing findings.

scholarly journals Gorlin-Goltz Syndrome

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Padma Pandeshwar ◽  
K. Jayanthi ◽  
D. Mahesh
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Autosomal Dominant ◽  
Skin Lesions ◽  
Secondary Prophylaxis ◽  
Appropriate Treatment ◽  
Goltz Syndrome ◽  
High Level ◽  
Typical Skin

The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome—NBCCS) is a rare autosomal dominant syndrome caused due to mutations in thePTCH(patched) gene found on chromosome arm 9q. The syndrome, characterized by increased predisposition to develop basal cell carcinoma and associated multiorgan anomalies, has a high level of penetrance and variable expressiveness. GGS is a multidisciplinary problem, early diagnosis of which allows introduction of secondary prophylaxis and following an appropriate treatment to delay the progress of the syndrome. The following report emphasizes the need for awareness of the diagnostic criteria of this syndrome in cases with no typical skin lesions.

scholarly journals Diagnostic path of a genetic disease: a case of Williams-Beuren syndrome in Burkina Faso

2015 ◽  
Vol 7 (4) ◽  
Author(s):  
Makoura Barro ◽  
Bintou Sanogo ◽  
Aimée S. Kissou ◽  
Ad Bafa Ibrahim Ouattara ◽  
Boubacar Nacro
Keyword(s):  
Mental Retardation ◽  
Burkina Faso ◽  
Clinical Diagnosis ◽  
Clinical Examination ◽  
Health Professionals ◽  
Genetic Disease ◽  
Neurodevelopmental Disorder ◽  
Dysmorphic Feature ◽  
Chromosome Band ◽  
Behavioral Abnormalities

Williams-Beuren syndrome (WBS) is a rare neurodevelopmental disorder characterized by a set of somatic, psychological, and behavioral abnormalities, which is caused by a deletion of several genes. Herein we report a 6 year-old boy, who presented with mental retardation and psychological disorders. The result of the first clinical examination was poor, since it didn’t detect any dysmorphic feature which is a major component for the clinical diagnosis of WBS. Despite the multidisciplinary and the multicenter approaches used, the diagnosis of WBS (deletion of chromosome band 7q11. 23) was established more than 3 years after the first medical consultation. Rare partial forms of WBS have been recently described and they are both clinically and genetically difficult to diagnose. Unfortunately, this disorder is still little known by health professionals.

scholarly journals Premature Ejaculation in Urban Malaysian Population: The Associations between Erectile Dysfunction(ED), Anxiety and Depression

2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Shamini Arasalingam ◽  
Hatta Sidi ◽  
Ng Chong Guan ◽  
Srijit Das ◽  
Marhani Midin ◽  
...  
Keyword(s):  
Erectile Dysfunction ◽  
Clinical Diagnosis ◽  
Premature Ejaculation ◽  
Strong Association ◽  
Depression Scale ◽  
Anxiety And Depression ◽  
Health Issues ◽  
Dsm V ◽  
Male Patients ◽  
The Relationship

Introduction: Both premature ejaculation(PE) and erectile dysfunction(ED) are prevalent sexual health disorders that have been inadequately investigated in Malaysia, a multiethnic and conservative nation.The objective of the study was to study the relationship between PE and ED, and other common mental health issues, i.e. anxiety and depression in Malaysian urban population. Methods: The diagnosis for PE was established by clinical diagnosis using DSM-5 and ISSM definition criteria for PE, whereas a diagnosis of ED was established by the International Index of Erectile Function (IIEF) questionnaire. Anxiety and depression levels were detected from the Hospital Anxiety and Depression Scale (HADS). Results: Based on DSM-V and ISSM clinical diagnosis for PE, the prevalence of PE was found to be 25%. Erectile dysfunction (p = 0.035, OR = 3.315, 95% CI 1.088, 10.103) and severe anxiety (p = 0.020, OR = 7.656, 95% CI 1.383, 42.396) significantly predicted presence of PE. Conclusion: There was a strong association between PE and ED and between PE and anxiety. Routine examination for PE in male patients should address the issue and the management of both ED and anxiety among PE patients, especially in an urban Malaysian clinical and medical care setting.

scholarly journals Genetic studies in the focal dermal hypoplasia of Goltz syndrome

1999 ◽  
Vol 1 (2) ◽  
pp. 63-63
Author(s):  
R E Schnur ◽  
L A Reed ◽  
K A Mockridge ◽  
M Geo
Keyword(s):  
Genetic Studies ◽  
Focal Dermal Hypoplasia ◽  
Goltz Syndrome

scholarly journals Mosaicism and incomplete penetrance of PCDH19 mutations

2018 ◽  
Vol 56 (2) ◽  
pp. 81-88 ◽  
Author(s):  
Aijie Liu ◽  
Xiaoxu Yang ◽  
Xiaoling Yang ◽  
Qixi Wu ◽  
Jing Zhang ◽  
...  
Keyword(s):  
Male Patient ◽  
Sanger Sequencing ◽  
De Novo ◽  
Digital Pcr ◽  
The Other ◽  
Incomplete Penetrance ◽  
Female Patients ◽  
Targeted Next Generation Sequencing ◽  
Male Patients ◽  
Patients With Epilepsy

BackgroundMutations in the PCDH19 gene have mainly been reported in female patients with epilepsy. To date, PCDH19 mutations have been reported in hundreds of females and only in 10 mosaic male epileptic patients with mosaicism.ObjectiveWe aimed to investigate the occurrence of mosaic PCDH19 mutations in 42 families comprising at least one patient with PCDH19-related epilepsy.MethodsTwo male patients with mosaic PCDH19 variants were identified using targeted next-generation sequencing. Forty female patients with PCDH19 variants were identified by Sanger sequencing and Multiple Ligation Probe Amplification (MLPA). Microdroplet digital PCR was used to quantify the mutant allelic fractions (MAFs) in 20 families with PCDH19 variants.ResultsFive mosaic individuals, four males and one female, were identified in total. Mosaic variant was confirmed in multiple somatic tissues from one male patient and in blood from the other male patient. Among 22 female patients harbouring a newly occurred PCDH19 variant identified by Sanger sequencing and MLPA, Sanger sequencing revealed two mosaic fathers (9%, 2/22), one with two affected daughters and the other with an affected child. Two asymptomatic mosaic fathers were confirmed as gonosomal mosaicism, with MAFs ranging from 4.16% to 37.38% and from 1.27% to 19.13%, respectively. In 11 families with apparent de novo variants, 1 female patient was identified as a mosaic with a blood MAF of 26.72%.ConclusionOur study provides new insights into phenotype-genotype correlations in PCDH19 related epilepsy and the finding of high-frequency mosaicism has important implications for genetic counselling.

scholarly journals Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature

2018 ◽  
Vol 6 (11) ◽  
pp. 2103-2110 ◽  
Author(s):  
Sofia Frisk ◽  
Catherine Grandpeix-Guyodo ◽  
Karin Popovic Silwerfeldt ◽  
Helgi Thor Hjartarson ◽  
Dimitris Chatzianastassiou ◽  
...  
Keyword(s):  
Male Patient ◽  
Clinical Report ◽  
Review Of The Literature ◽  
Goltz Syndrome
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