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 Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis–Cacchione Syndrome and a Novel XPC Mutation

2017 ◽  
Vol 2017 ◽  
pp. 1-7 ◽  
Author(s):  
Esteban Uribe-Bojanini ◽  
Sara Hernandez-Quiceno ◽  
Alicia María Cock-Rada
Keyword(s):  
Xeroderma Pigmentosum ◽  
Excision Repair ◽  
Genetic Disorders ◽  
Clinical Manifestations ◽  
Skin Lesions ◽  
Panel Testing ◽  
First Case ◽  
Skin Malignancy ◽  
Increased Risk ◽  
History Of

Several genetic disorders caused by defective nucleotide excision repair that affect the skin and the nervous system have been described, including Xeroderma Pigmentosum (XP), De Sanctis–Cacchione syndrome (DSC), Cockayne syndrome, and Trichothiodystrophy. Cutaneous photosensitivity with an increased risk of skin malignancy is a common feature of these disorders, but clinical manifestations commonly overlap these syndromes. Several genes have been found to be altered in these pathologies, but we lack more genotype-phenotype correlations in order to make an accurate diagnosis. Very few cases of DSC syndrome have been reported in the literature. We present a case of a 12-year-old Colombian male, with multiple skin lesions in sun-exposed areas from the age of 3 months and a history of 15 skin cancers. He also displayed severe neurologic abnormalities (intellectual disability, ataxia, altered speech, and hyperreflexia), short stature, and microcephaly, which are features associated with DSC. Genetic testing revealed a novel germline mutation in the XP-C gene (c.547A>T). This is the first case of an XP-C mutation causing De Sanctis–Cacchione syndrome. Multigene panel testing is becoming more widely available and accessible in the clinical setting and will help rapidly unveil the molecular etiology of these rare genetic disorders.

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 Linear porokeratosis: a case report

2012 ◽  
Vol 4 (3) ◽  
pp. 105-112
Author(s):  
Slobodan Stojanović ◽  
Marina Jovanović ◽  
Nada Vučković ◽  
Siniša Tasić ◽  
Keyword(s):  
Clinical Case ◽  
Local Treatment ◽  
Clinical Manifestations ◽  
Skin Lesions ◽  
Skin Carcinoma ◽  
Imiquimod Cream ◽  
Lines Of Blaschko ◽  
Cornoid Lamella ◽  
Co2 Laser Ablation ◽  
Timely Treatment

Abstract Porokeratosis is a rare genodermatosis based on chronic keratinization disorder histologically characterized by the presence of a cornoid lamella and various clinical manifestations. Five most commonly described types of poroketarosis are porokeratosis of Mibelli or ”classic” porokeratosis, disseminated superfi cial actinic porokeratosis, disseminated palmoplantar porokeratosis, linear porokeratosis, and punctate porokeratosis. In all of the fi ve clinical types of porokeratosis described today, cases of planocellular skin carcinoma are described, except in punctate type cases. Use of topical CO2 laser ablation, cryotherapy and topical use of 5% Imiquimod cream, have shown favorable effects in local treatment of porokeratosis. The authors present a clinical case of a girl suffering from linear porokeratosis over the course of the last four years, spreading on the inside of her right arm along the lines of Blaschko. Linear porokeratosis was histologically confi rmed by biopsy of skin lesions and dermoscopy. Dermoscopic fi ndings, used as an auxiliary method, also indicated linear porokeratosis. Successful liquid nitrogen cryotherapy prompted the authors to present a case in which the applied treatment proved to be successful, but also to emphasize the need for timely treatment in order to prevent malignant alterations of these changes.

scholarly journals Urticaria-like rash in a patient with COVID-19 associated pneumonia of moderate severity: aspects of pathogenesis

2020 ◽  
Vol 23 (2) ◽  
pp. 109-114
Author(s):  
Ekaterina V. Orlova ◽  
L. M. Smirnova ◽  
N. I. Melikova ◽  
K. Yu. Popova
Keyword(s):  
Clinical Case ◽  
Case Reports ◽  
Clinical Manifestations ◽  
Skin Lesions ◽  
Infection Process ◽  
Moderate Severity ◽  
Skin Manifestations ◽  
General Weakness

In mid 2020, the number of new coronavirus (COVID-19) cases has exceeded globally six million. The clinical manifestations of COVID-19 infection are numerous mostly causing damage to the bronchopulmonary system in the form of a dry cough, rhinitis, dyspnea, fever, myalgia, and general weakness. Skin manifestations of COVID-19 are rare and currently include five types of skin lesions occurring during the infection process, which are reliably recorded in only a limited number of case reports and certain analytical publications. This article describes the clinical case of a 28-year-old patient with urticaria-like disseminated rash and confirmed COVID-19-associated pneumonia.

scholarly journals Experience with tafamidis in a patient with transthyretin amyloidosis

Kardiologiia ◽  
2020 ◽  
Vol 60 (3) ◽  
pp. 155-160
Author(s):  
S. N. Nasonova ◽  
I. V. Zhirov ◽  
M. M. Magomedov ◽  
M. A. Saidova ◽  
Yu. F. Osmolovskaya ◽  
...  
Keyword(s):  
Heart Failure ◽  
Nervous System ◽  
Genetic Disease ◽  
Clinical Case ◽  
Clinical Manifestations ◽  
Functional Class ◽  
Class Iii ◽  
Transthyretin Amyloidosis ◽  
Attr Amyloidosis ◽  
Heart Injury

Transthyretin amyloidosis (ATTR) is a threatening and severe genetic disease characterized by damages to organs and systems caused by a pathological protein transthyretin produced in the liver. Clinical manifestations of this disease vary from injuries of the nervous system to injuries of the cardiovascular system. Prognosis for ATTR-amyloidosis remains unfavorable. The absence of pathognomonic symptoms complicates diagnostics of this disease, which tends to simulate other conditions. At present, medicines exist, which are pathogenetic in the treatment of ATTR-amyloidosis. The article describes a clinical case of ATTR-amyloidosis with primary heart injury complicated with functional class III chronic heart failure during the tafamidis treatment.

scholarly journals Molecular basis of glaucoma and its therapeutical analysis in Pakistan: an overview

2017 ◽  
Vol 4 (03) ◽  
pp. 1210 ◽  
Author(s):  
Luqman Khan ◽  
Muhammad Ali ◽  
Muhammad Qasim ◽  
Farhat Jabeen ◽  
Basharat Hussain
Keyword(s):  
Optic Nerve ◽  
Visual Field ◽  
Ganglion Cells ◽  
Day Treatment ◽  
Genetic Disorders ◽  
Clinical Manifestations ◽  
Visual Field Defects ◽  
Treatment Preferences ◽  
Retinal Ganglion ◽  
Delay In Diagnosis

The human eye is an organ of vision. It plays a prime role in life, gives us the sense of sight, and enables to understand about the world around us. Visualization and interpretation of colors, shapes and dimensions of numerous objects is made possible by eye. Inherited eye diseases comprise 1/3 of all reported human genetic disorders. This review will focus on Glaucoma which comprises a predictable visual illnesses concerning optic nerve deterioration and if remains without any cure can result in failure in eyesight. The optical nerve injure comprises deterioration of the retinal ganglion cells (RGCs). Glaucoma represents a heterogeneous group of optic neuropathies with a complex genetic basis. These neuropathies gradually reduce vision without warning and often without symptoms. Different forms of glaucoma share some common clinical manifestations that usually include specific abnormal appearance of the optic nerve head, characteristic loss of visual field and chronic painless progression. Glaucoma is a progressive optical neuropathy considered by optical disc changes, nerve fiber film break, and visual field defects. Present-day treatment preferences predominantly targeting at reducing IOP by making use of pharmaceutical means, laser treatment and surgical procedure. Developed conducts target neuroprotection with vaccines, the hang-up of NO synthesis and apoptosis. Attaining a better appreciative of the pathogenesis can support in the improvement of novel handling options and, perhaps, even a remedy for glaucoma. There are more than 1.8million glaucoma patients in Pakistan and almost half of them have already lost their eyesight, permanently, due to delay in diagnosis and treatment. About 90% population in the country has no awareness about this disease, resultantly; more and more people are becoming permanently blind in Pakistan due to untreated glaucoma.

Cowden syndrome

2020 ◽  
Vol 18 (6) ◽  
pp. 76-84
Author(s):  
D.A. Polunina ◽  
◽  
M.E. Bagaeva ◽  
I.F. Tin ◽  
E.V. Pavlovskaya ◽  
...  
Keyword(s):  
Case Report ◽  
Lipid Metabolism ◽  
Genetic Disease ◽  
Clinical Case ◽  
Autosomal Dominant ◽  
Clinical Signs ◽  
Clinical Manifestations ◽  
Cowden Syndrome ◽  
Insufficient Evidence ◽  
Dominant Inheritance

Cowden syndrome is a rare genetic disease with the autosomal dominant inheritance, characterised by a combination of macrocephaly with multiple hamartomas and impaired lipid metabolism. The article presents a clinical case report of this disease in a 8-year-old boy with two genetically confirmed mutations in the genes PTEN and SHDB responsible for the development of Cowden syndrome. At present, there is insufficient evidence about the influence of combined pathogenic mutations in both genes and, consequently, about the possible outcomes and clinical manifestations of the disease. Taking into account the rarity of this pathology, multisystem organ involvement and also the absence of characteristic clinical signs in childhood, a description of this clinical case might be of interest in order to raise the awareness for Cowden syndrome. Key words: Cowden syndrome, hamartomas, PTEN, SDH, succinate dehydrogenase, hypoglycaemia, dyslipidemia

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.

Clinical case of lung lesions in patient with newly diagnosed systemic lupus erythematosus

2019 ◽  
Vol 1 (9) ◽  
pp. 53-57
Author(s):  
T. N. Gavva ◽  
L. V. Kuzmenkova ◽  
Yu. N. Fedulaev ◽  
T. V. Pinchuk ◽  
D. D. Kaminer ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Clinical Case ◽  
Clinical Manifestations ◽  
Lung Damage ◽  
Newly Diagnosed ◽  
Systemic Lupus ◽  
Lung Lesions ◽  
Laboratory Parameters ◽  
Clinical Interest

A case of lung damage in systemic lupus erythematosus (SLE) in a 33-year-old woman is described. This case is of clinical interest due to the complexity of diagnosis due to the fact that SLE is a disease with diverse clinical manifestations involving many organs and systems, which often makes it difficult to timely recognize the onset of the disease. SLE still remains a challenge and requires special attention to the patient s history, clinical and laboratory parameters of the patient, as well as specific immunological examinations.

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