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.

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 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 Unilateral Focal Dermal Hypoplasia (Goltz Syndrome): Case Report and Literature Review

2018 ◽  
Vol 10 (2) ◽  
pp. 101-109 ◽  
Author(s):  
Sahar Alsharif ◽  
Sohad Hindi ◽  
Fay  Khoja
Keyword(s):  
De Novo ◽  
Dental Enamel ◽  
Linear Pattern ◽  
Focal Dermal Hypoplasia ◽  
Goltz Syndrome ◽  
Lines Of Blaschko ◽  
Multisystemic Disease ◽  
The Face ◽  
Sparse Hair ◽  
The Right

Focal dermal hypoplasia (FDH) or Goltz syndrome is a rare X-linked dominant multisystemic disease involving the ectoderm, mesoderm, and endoderm. About 95% of the cases appear de novo, and 90% of them are females. Recently, the studies revealed that FDH is caused by a mutation in the PORCN gene. We report a case of unilateral FDH or Goltz syndrome in a 16-year-old girl presenting with hypopigmented-reticulated atrophic macules and patches in a linear pattern distributed along the lines of Blaschko over the right side of the face and the right arm. Also she is having hypoplasia of the right breast with dental enamel abnormality and partial anodontia in the lower jaw. Sparse hair and partial alopecia on the right side (scalp, eyebrows, and eyelashes) were also observed.

Paraneoplastic pemphigus associated with rapidly progressing endophthalmitis caused by Morganella Morganii: A case report

2021 ◽  
pp. 112067212110334
Author(s):  
Abdullah I Almater ◽  
Mohammed M Abusayf ◽  
Saeed Alshahrani ◽  
Abdullah M Alfawaz ◽  
Hind M Alkatan ◽  
...  
Keyword(s):  
Positive Culture ◽  
Skin Lesions ◽  
Stevens Johnson Syndrome ◽  
Corneal Perforation ◽  
Morganella Morganii ◽  
Paraneoplastic Pemphigus ◽  
First Case ◽  
Johnson Syndrome ◽  
Acute Necrotizing ◽  
The Right

Introduction: The ocular presentation of paraneoplastic pemphigus (PNP) has rarely been reported in the literature. In this report, we describe a 61-year-old male presenting with eruptive skin lesions associated with underlying non-Hodgkin’s lymphoma who had rapid progressive corneal perforation with secondary endophthalmitis in the setting of PNP. Case description: A 61-year-old male presented to the emergency department complaining of skin eruption mimicking Stevens–Johnson syndrome, which was later found to be related to PNP. Initially, the patient complained of progressive ocular surface dryness in both eyes. Meanwhile, he developed mild pain in the right eye associated with blurry vision in both eyes and was managed with lubricants and topical antibiotics. A few days later, he was found to have corneal perforation with features suggestive of left endophthalmitis with possible early panophthalmitis. Intravenous antibiotic was administered, and primary evisceration of the left globe was performed. Histopathology revealed acute necrotizing keratitis and endophthalmitis. Vitreous analysis showed numerous gram-negative bacilli and a positive culture of Morganella morganii. The patient continued to be managed with frequent lubrications and punctual plugs in the fellow eye during the follow-up period. Conclusion: We describe the first case of endophthalmitis developing secondary to PNP-induced corneal melting and perforation. Anticipating unusual infectious sequelae in the setting of PNP might be warranted to actively detect and successfully manage dry eye disease before devastating complications develop.

Primary cutaneous nocardiosis of the head and neck in an immunocompetent patient

2021 ◽  
Vol 14 (5) ◽  
pp. e241217
Author(s):  
Claudio Tirso Acevedo ◽  
Frank Imkamp ◽  
Ewerton Marques Maggio ◽  
Silvio Daniel Brugger
Keyword(s):  
Head And Neck ◽  
Skin Lesions ◽  
Immunocompetent Patient ◽  
Rrna Gene ◽  
Gene Sequence Analysis ◽  
Rare Manifestation ◽  
Life Threatening ◽  
Amoxicillin Clavulanic Acid ◽  
Disseminated Nocardiosis ◽  
The Right

Nocardiosis is known to be an opportunistic infection most commonly affecting immunocompromised patients that can lead to life-threatening conditions. Primary cutaneous disease remains a rare manifestation and unlike pulmonary or disseminated nocardiosis, it usually affects immunocompetent individuals. We present a case of a primary cutaneous nocardiosis of the head and neck after an insect bite in a healthy 50-year-old woman who had recently travelled from Greece. She presented with a painful right-sided swelling of her face and neck and an ulcerated plaque over the right temple. Biopsy of the plaque revealed inflammation with abscess formation indicating underlying infection. Culture from the biopsy showed growth of Nocardia spp and 16S rRNA gene sequence analysis identified Nocardia brasiliensis. The patient was treated with trimethoprim/sulfamethoxazole and subsequently switched to amoxicillin/clavulanic acid due to a drug eruption. Antibiotic therapy was continued for a total of 3 months with complete resolution of the skin lesions.

scholarly journals Low Back Pain in Hidradenitis Suppurativa: A Diagnosis Not to Miss!

2018 ◽  
Vol 10 (2) ◽  
pp. 187-189
Author(s):  
Benjamin Schnebert ◽  
Véronique del Marmol ◽  
Farida Benhadou
Keyword(s):  
Low Back Pain ◽  
Back Pain ◽  
Hidradenitis Suppurativa ◽  
Combined Therapy ◽  
Skin Lesions ◽  
Skin Area ◽  
Low Back ◽  
Inflammatory Drugs ◽  
The Right ◽  
Altered Sensitivity

We report the case of a patient suffering from hidradenitis suppurativa since puberty and complaining of chronic low back pain associated to altered sensitivity and muscular weakness in the right leg. A diagnosis of lumbosciatica was confirmed. Symptoms were not relieved after the use of nonsteroidal anti-inflammatory drugs and analgesics. A surgical decompression was then indicated but heavily debated. Indeed, extended inflammatory and fibrotic hidradenitis suppurativa lesions were located regarding the skin area eligible for the proposed surgery. A combined therapy with clindamycine/rifampicin was started and the surgery was postponed. A complete remission of the articular symptoms was observed 1 month after the start of the antibiotherapy and the inflammatory skin lesions were greatly improved. With the presentation of this clinical case, we would like to discuss the spectrum of rheumatic disorders associated to hidradenitis suppurativa that needs to be correctly diagnosed and taken into consideration in the therapeutic management of the patient.

Extensive Facial Clefting in a Patient with Goltz Syndrome: Multidisciplinary Treatment of a Previously Unreported Association

2002 ◽  
Vol 39 (4) ◽  
pp. 469-473 ◽  
Author(s):  
Jeffrey A. Ascherman ◽  
Sean L. Knowles ◽  
Kenneth C. Troutman
Keyword(s):  
Musculoskeletal System ◽  
Multidisciplinary Approach ◽  
Multidisciplinary Treatment ◽  
Severe Form ◽  
Female Infant ◽  
Craniofacial Abnormalities ◽  
Multisystem Disorder ◽  
Facial Region ◽  
Facial Cleft ◽  
Goltz Syndrome

Objective Goltz syndrome is a rare, X-linked dominant, multisystem disorder found almost exclusively in female patients. Although the cutaneous features predominate in most reports, characteristic abnormalities are also frequently present in the musculoskeletal system and facial region. We report a female infant born with a severe form of Goltz syndrome that included an extremely wide facial cleft, an abnormality not previously reported in a patient with this disorder. Her management demonstrates the advantages of a multidisciplinary approach to effectively care for patients with severe craniofacial abnormalities.

scholarly journals Bullous Hemorrhagic Dermatosis Induced By Heparin: An Indonesian Case Report

2021 ◽  
pp. 8-12
Author(s):  
Syahfori Widiyani ◽  
Irsalina Rahmawati ◽  
W. Yohannes Widodo ◽  
Dian Zamroni ◽  
Fajar L. Gultom ◽  
...  
Keyword(s):  
Skin Lesions ◽  
Low Molecular Weight ◽  
Heparin Induced Thrombocytopenia ◽  
Clinical Disorder ◽  
Heparin Treatment ◽  
Life Threatening ◽  
Topical Treatments ◽  
Lesion Regression ◽  
The Right ◽  
Related Reaction

Introduction: Bullous haemorrhagic dermatosis is a rare clinical disorder which is usually related to a treatment with unfractionated heparin (UFH) or low molecular weight heparin (LMWH), characterized by multiple intra-epidermal haemorrhages distant from the site of injection. Presentation of Case: A 62-year-old male patient with coronary heart disease who received heparin treatment experienced several tense, haemorrhagic bullae located on the right arm area, close to the injection site, and followed by the formation of several hematomas on his back trunk 2 days after he had received UFH. The lesions regressed after discontinuation of heparin and supportive topical treatments. Discussion: The lesions in this patient have similar characteristic with heparin-induced skin necrosis and demonstrate thrombocytopenia probably related to heparin. There are some proposed hypotheses of pathophysiology which include hypersensitivity reaction and idiosyncratic dose-related reaction. Given the clinically course, the discontinuation of heparin treatment was essential for lesion regression in addition other supportive measures. Conclusion: Heparin-induced skin lesions may indicate the presence of life-threatening heparin-induced thrombocytopenia. An early diagnosis is crucial to enable discontinuation of heparin if required.

scholarly journals An Uncommon Presentation of Leiomyoma Cecum as a Subcutaneous Abscess of the Right Flank

Cureus ◽  
2018 ◽  
Author(s):  
Sakthivel Chinnakkulam Kandhasamy ◽  
Anubhav Sangwan ◽  
Ashok Kumar Sahoo ◽  
Gopalakrishnan Gunasekaran ◽  
Neelam Sahani ◽  
...  
Keyword(s):  
Uncommon Presentation ◽  
The Right

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
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