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 Malignant Melanoma in Child with Xeroderma Pigmentosum: A Rare Case

2020 ◽  
Vol 32 (1) ◽  
pp. 70
Author(s):  
Riezky Januar Pramitha ◽  
Sawitri Sawitri
Keyword(s):  
Malignant Melanoma ◽  
Cell Carcinoma ◽  
Xeroderma Pigmentosum ◽  
Excision Repair ◽  
Genetic Disorder ◽  
Tumor Development ◽  
Clinical Manifestations ◽  
The Body ◽  
Malignant Neoplasms ◽  
Increased Risk

Background: Xeroderma pigmentosum (XP) is an autosomal recessive genetic disorder characterized by photosensitivity, cutaneous pigmentary changes, and malignant tumor development at an early age. The basic defect underlying the clinical manifestations is nucleotide excision repair defect, leading to defective repair of ultraviolet (UV)-induced DNA. XP patients who are younger than 20 years of age have more than 1000-fold increased risk of developing malignant neoplasms of the skin, which commonly include squamous cell carcinoma, basal cell carcinoma, fibrosarcoma, and malignant melanoma. Malignant melanoma arises in only about 3% of XP patients. Purpose: To report a case of malignant melanoma in a child with XP. Case: A 7-years-old girl presented with multiple hypopigmentation and hyperpigmentation macules since age of two, throughout the body, more on sun-exposed areas. The physical examination showed solitary tumor extensive ulcero- proliferative surface with areas of hemorrhage and blackish pigmentation on the vertex region. Histological examination revealed a feature of nodular malignant melanoma, and the condition became worse after she underwent two cycles of chemotherapy. Discussion: Despite the rare occurrence, the nodular type of malignant melanoma in XP patients is the most aggressive and responsible for the fatal condition. Conclusion: Early detection of XP is necessary due to its fast-growing nature and high metastatic possibility as well as mortality index.

Gonorrhea in Preadolescent Children: An Inquiry Into Source of Infection and Mode of Transmission

PEDIATRICS ◽  
1977 ◽  
Vol 60 (2) ◽  
pp. 153-156 ◽  
Author(s):  
David S. Folland ◽  
Ralph E. Burke ◽  
Alan R. Hinman ◽  
William Schaffner
Keyword(s):  
Child Neglect ◽  
Sexual Transmission ◽  
Clinical Manifestations ◽  
Positive Culture ◽  
Sexual Contact ◽  
Gonococcal Infection ◽  
Vaginal Infection ◽  
Source Of Infection ◽  
Increased Risk ◽  
History Of

From November 1974 through December 1975 a study was made of all reported cases of gonorrhea in children under 10 years of age in Tennessee. Clinical manifestations of the 73 subjects identified included vaginal infection (48), urethritis (11), conjunctivitis (8), and ophthalmia neonatorum (6). A total of 203 relatives and associates of 54 subjects was cultured. Fifty-four (27%) had gonorrhea; 43 of these were relatives. A history of sexual contact was found in 18 children, including seven where the contact had a positive culture for Neisseria gonorrhoeae. Sexual transmission was common in children with vaginitis or urethritis. In nine cases, sexual abuse or child neglect was suspected. The recognition of a child with gonococcal infection identifies a cluster of family members and associates who are at increased risk of having gonorrhea.

scholarly journals Familial pneumothorax: towards precision medicine

Thorax ◽  
2017 ◽  
Vol 73 (3) ◽  
pp. 270-276 ◽  
Author(s):  
Rachel M Scott ◽  
Elizabeth P Henske ◽  
Benjamin Raby ◽  
Philip M Boone ◽  
Rosemary A Rusk ◽  
...  
Keyword(s):  
Family History ◽  
Precision Medicine ◽  
Genetic Disorders ◽  
Clinical Manifestations ◽  
Genetic Causes ◽  
Life Threatening ◽  
History Of

One in 10 patients suffering from primary spontaneous pneumothoraces has a family history of the disorder. Such familial pneumothoraces can occur in isolation, but can also be the presentation of serious genetic disorders with life-threatening vascular or cancerous complications. As the pneumothorax frequently precedes the more dangerous complications by many years, it provides an opportunity to intervene in a focused manner, permitting the practice of precision medicine. In this review, we will discuss the clinical manifestations and underlying biology of the genetic causes of familial pneumothorax.

scholarly journals A Case of Giant Posterior Mediastinal Mass: Gastrointestinal Stromal Tumor Developed in Neurofibromatosis Type 1 Patient.

2021 ◽  
Author(s):  
Volkan ASLAN ◽  
Fatih Gürler ◽  
ozan yazıcı ◽  
özlem erdem ◽  
ali çelik ◽  
...  
Keyword(s):  
Histopathological Examination ◽  
Genetic Disorders ◽  
Neurofibromatosis Type ◽  
Skin Lesions ◽  
Posterior Mediastinum ◽  
Pathological Examination ◽  
Imatinib Treatment ◽  
First Case ◽  
Posterior Mediastinal

Abstract Introduction: Gastrointestinal Stromal Tumors mostly located in the stomach and esophageal GIST is extremely rare. Various genetic disorders increase the risk of developing GIST, among these, NF-1 is the most common. A case of posterior mediastial GIST developing in the neurofibromatosis patient has not been reported yet.Case: A 48-year-old male patient is being evaluated with complaints of dyspnea and progressive dysphagia. Computed tomography detected a cystic, lobulated contour mass that was located at the posterior mediastinum and measuring 11 x 14x12 cm. The giant semisolid mass has been dissected from adjacent the vertebra, the esophagus, pericardium and inferior pulmonary vein and Histopathological examination revealed GİST. Pathological examination of skin lesions confirmed NF-1. Finally, NF-1-associated posterior mediastinal GIST was diagnosed and adjuvant imatinib treatment was initiated. Conclusion: To the best our knowledge, this patient was the first case, who diagnosed with posterior mediastinal GIST developing on the basis of NF-1.

scholarly journals Essential syphilitic alopecia: Non-scarring alopecia in 21-year-old man

2021 ◽  
Vol 12 (e) ◽  
pp. 1-3
Author(s):  
Hafssa Chehab ◽  
Bertrand Richert
Keyword(s):  
Hair Loss ◽  
Previous History ◽  
Treponema Pallidum ◽  
Clinical Manifestations ◽  
Skin Lesions ◽  
Secondary Syphilis ◽  
Laboratory Evaluation ◽  
History Of ◽  
High Level

ABSTRACT Alopecia syphilitica is a less common clinical manifestations of secondary syphilis. It is uncommon for hair loss to be the sole or predominant manifestation, as hair loss is the chief clinical and histologic differential diagnosis of. The main difference between alopecia areata and Alopecia syphilitica is the detection of Treponema pallidum in syphilis. We present the case of a 21- year-old belgium man with different patches of non-cicatricial alopecia of his scalp. The patient denied previous history of genital or other skin lesions. Laboratory evaluation was positive for syphilis. The diagnosis of alopecia syphilitica was made and he was treated with single intramuscular injections of benzathine penicillin. The lesions improved with treatment in all the patients who attended follow-up. Dermatologists should maintain a high level of clinical suspicion for this uncommon manifestation of syphilis, particularly when it is the only symptom.

scholarly journals Systemic mastocytosis: variable manifestations can lead to a challenging diagnostic process

2019 ◽  
Vol 12 (8) ◽  
pp. e229967 ◽  
Author(s):  
Susanna Nallamilli ◽  
Aideen O’Neill ◽  
Andrew Wilson ◽  
Mallika Sekhar ◽  
Jonathan Lambert
Keyword(s):  
Quality Of Life ◽  
Bone Marrow ◽  
Cell Clone ◽  
Systemic Mastocytosis ◽  
Clinical Manifestations ◽  
Skin Lesions ◽  
Diagnostic Process ◽  
Histamine Antagonists ◽  
History Of

Systemic mastocytosis results from proliferation and activation of an abnormal mast cell clone. It is a heterogeneous disorder with clinical manifestations ranging from skin lesions alone to aggressive multi-organ infiltration and decreased survival. Given these varied manifestations, diagnosis can be difficult. We describe the case of a woman who presented with rash and diarrhoea and had a history of anaphylactic reactions. Over a protracted period, the patient’s symptoms were investigated by a number of specialties including gastroenterology, dermatology, immunology and haematology. Morphological, immunohistochemical and molecular analysis of bone marrow samples ultimately led to a diagnosis of systemic mastocytosis. Management with leukotriene and histamine antagonists resulted in significant improvement in symptoms and quality of life. The case serves to highlight the protean manifestations of systemic mastocytosis, the tests available to diagnose it and the agents available to treat it.

Novel Folliculin Gene Mutations in Polish Patients With Birt-hogg-dubé Syndrome

2021 ◽  
Author(s):  
Elzbieta Radzikowska ◽  
Urszula Lechowicz ◽  
Jolanta Winek ◽  
Lucyna Opoka
Keyword(s):  
Gene Mutations ◽  
Skin Lesions ◽  
Renal Angiomyolipoma ◽  
Inherited Disease ◽  
First Case ◽  
Renal Tumours ◽  
Pulmonary Cysts ◽  
Frequent Mutations ◽  
History Of ◽  
The Mean

Abstract Birt-Hogg-Dubé syndrome (BHDS) is a rare, autosomal dominant, inherited disease caused by mutations in the folliculin gene (FLCN). The disease is characterised by skin lesions (fibrofolliculomas, trichodiscomas, acrochordons), pulmonary cysts with pneumothoraces and renal tumours. We present the features of Polish patients with BHDS.Materials and MethodsThe first case of BHDS in Poland was diagnosed in 2016. Since then, 15 cases from 10 families have been identified. Thirteen patients were confirmed via direct FLCN sequencing, and two according to their characteristic clinical and radiological presentations.ResultsBHDS was diagnosed in 15 cases (13 women and 2 men) from 10 families. The mean ages at the time of first pneumothorax and diagnosis were 38.4 ± 13.9 and 47.7 ± 13 years, respectively. Five patients (33%) were ex-smokers (2.1 ± 1.37 packyears), and 10 (67%) had never smoked cigarettes. Twelve patients (83%) had a history of recurrent symptomatic pneumothorax. Three patients had small, asymptomatic pneumothoraces, which were only detected upon computed tomography examination. All patients had multiple bilateral pulmonary cysts, distributed predominantly in the lower and middle, peripheral, and subpleural regions of the lungs. Generally, patients exhibited preserved lung function. Skin lesions were seen in four patients (27%), one patient had renal angiomyolipoma, and one had bilateral renal cancer. Different mutations of the FLCN gene were identified (mainly in exon 6), with two novel heterozygous variants: c.490delA p.(Arg164GlyTer13) and c.40delC p.(His14ThrsfTer41). ConclusionsAll analysed patients with BHDS presented with lung lesions and with less frequent skin and renal lesions than previously reported in other populations. In addition, more frequent mutations located in exon 6 were detected, and two novel FLCN gene mutations were identified.

Lichen Planus and Lichenoid Lesions of the Oral Cavity

1994 ◽  
Vol 103 (6) ◽  
pp. 495-497 ◽  
Author(s):  
John G. Batsakis ◽  
Karen R. Cleary ◽  
Kyung-Ja Cho
Keyword(s):  
Oral Cavity ◽  
Lichen Planus ◽  
Oral Lichen Planus ◽  
Clinical Manifestations ◽  
Spontaneous Resolution ◽  
Increased Risk ◽  
History Of ◽  
Cutaneous Form ◽  
Oral Lichen ◽  
Chronic Course

Lichen planus is a mucocutaneous disease of unknown cause that has its principal clinical manifestations in the skin and mucosa of the oral cavity. The natural history of the cutaneous form is one of spontaneous resolution over time, while oral lichen planus pursues a much more chronic course with a low order of resolution. Oral lichen planus must be distinguished from lichenoid lesions, including lichenoid dysplasia. Malignant change in oral lichen planus is rare and is prompted by carcinogenic cofactors. There is no increased risk of development of carcinoma in cutaneous lichen planus.

scholarly journals Tinea Corporis Gladiatorum Presenting as a Majocchi Granuloma

2011 ◽  
Vol 2011 ◽  
pp. 1-3 ◽  
Author(s):  
Anil Kurian ◽  
Richard M. Haber
Keyword(s):  
Antifungal Therapy ◽  
Fungal Infections ◽  
Skin Lesions ◽  
Tinea Corporis ◽  
Fungal Culture ◽  
Erythematous Plaque ◽  
Clinical Appearance ◽  
First Case ◽  
Increased Risk ◽  
Tinea Corporis Gladiatorum

Background. Wrestlers are at increased risk of developing cutaneous infections, including fungal infections caused by dermatophytes. Erythematous lesions due to tinea infections can be mistakenly diagnosed as an inflammatory dermatitis and incorrectly treated with potent topical corticosteroid treatments which cause localized skin immunosuppression. This can eventuate in a Majocchi granuloma which then becomes refractory to topical antifungal therapy. To our knowledge, this is the first case of tinea corporis gladiatorum presenting as a Majocchi granuloma. Observations. A 20-year-old wrestler presented with a 4-year history of a large pruritic, scaly erythematous plaque with follicular papules, and pustules on his right forearm. The lesion had the clinical appearance of a Majocchi granuloma. He had been treated with potent topical corticosteroids and topical antifungal therapy. KOH and fungal culture of the lesion were negative. An erythematous scaly lesion in the scalp was cultured and grew Trichophyton tonsurans. Oral Terbinafine therapy was initiated and complete resolution of both lesions occurred within 6 weeks. Conclusion. The purpose of this report is to inform dermatologists that tinea corporis gladiatorum can present as a Majocchi granuloma and needs to be considered in the differential diagnosis of persistent skin lesions in wrestlers.

scholarly journals Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F

2018 ◽  
Vol 4 (3) ◽  
pp. e240 ◽  
Author(s):  
Niraj M. Shanbhag ◽  
Michael D. Geschwind ◽  
John J. DiGiovanna ◽  
Catherine Groden ◽  
Rena Godfrey ◽  
...  
Keyword(s):  
Brain Atrophy ◽  
Xeroderma Pigmentosum ◽  
Excision Repair ◽  
Skin Neoplasms ◽  
Complementation Group ◽  
Compound Heterozygous ◽  
Adult Onset ◽  
Progressive Neurodegeneration ◽  
History Of ◽  
Sun Sensitivity

ObjectiveTo describe the features of 2 unrelated adults with xeroderma pigmentosum complementation group F (XP-F) ascertained in a neurology care setting.MethodsWe report the clinical, imaging, molecular, and nucleotide excision repair (NER) capacity of 2 middle-aged women with progressive neurodegeneration ultimately diagnosed with XP-F.ResultsBoth patients presented with adult-onset progressive neurologic deterioration involving chorea, ataxia, hearing loss, cognitive deficits, profound brain atrophy, and a history of skin photosensitivity, skin freckling, and/or skin neoplasms. We identified compound heterozygous pathogenic mutations in ERCC4 and confirmed deficient NER capacity in skin fibroblasts from both patients.ConclusionsThese cases illustrate the role of NER dysfunction in neurodegeneration and how adult-onset neurodegeneration could be the major symptom bringing XP-F patients to clinical attention. XP-F should be considered by neurologists in the differential diagnosis of patients with adult-onset progressive neurodegeneration accompanied by global brain atrophy and a history of heightened sun sensitivity, excessive freckling, and skin malignancies.

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