scholarly journals Case for diagnosis

2012 ◽  
Vol 87 (6) ◽  
pp. 933-935 ◽  
Author(s):  
Iolanda Conde Fernandes ◽  
Madalena Sanches ◽  
Rosário Alves ◽  
Manuela Selores
Keyword(s):  
Clinical Features ◽  
Rare Variant ◽  
Clinical Case ◽  
Dermatitis Herpetiformis ◽  
Skin Lesions ◽  
Atypical Presentation ◽  
Excellent Response

We report a clinical case of a rare variant of pemphigus - pemphigus herpetiformis - which combines the clinical features of dermatitis herpetiformis with the immunological findings of pemphigus. Due to its atypical presentation, it is frequently misdiagnosed as dermatitis herpetiformis. It is basically characterized by the herpetiform pattern of skin lesions, severe pruritus and by the presence of eosinophilic spongiosis confirmed on histopathology. We call attention to the excellent response to dapsone.

THE RELATIONSHIP OF DERMATITIS HERPETIFORMIS TO INCONTINENTIA PIGMENTI IN NEWBORN INFANTS

PEDIATRICS ◽  
1962 ◽  
Vol 29 (2) ◽  
pp. 295-302
Author(s):  
Bertil Palmgren
Keyword(s):  
Herpes Simplex ◽  
Dermatitis Herpetiformis ◽  
Neutralization Test ◽  
Newborn Infants ◽  
Skin Lesions ◽  
Incontinentia Pigmenti ◽  
Clinical Stages ◽  
Simplex Virus ◽  
Relationship Of ◽  
The Relationship

A description is given of incontinentia pigmenti, with special reference to the various clinical stages and the theories of the causes of the condition. One case seen in a girl is described. The case was characterized by a very severe vesicular stage and marked eosinophilia in the blood as well as in the skin lesions. Herpes simplex virus could be regularly demonstrated in fluid from fresh vesicles. The neutralization test for herpes simplex showed no increase in the antibody titer of the patient, while during the following months an increase in titer was noted in the mother. At 2 years of age the child was normally developed, apart from a somewhat retarded eruption of the decidous teeth.

Multiple pyogenic granules of the face

2021 ◽  
pp. 48-49
Author(s):  
I. V. Khimich ◽  
M. V. Kirpichnikov ◽  
V. V. Podolsky ◽  
E. N. Yarygina ◽  
I. A. Maksutin ◽  
...  
Keyword(s):  
Treatment Regimen ◽  
Clinical Features ◽  
Clinical Case ◽  
The Face

The prevalence and clinical features of multiple pyogenic granulomas of the face are discussed on the example of a clinical case. A treatment regimen for this pathology is presented and an assessment of its effectiveness is given.

Atypical Eating Disorders and Specific Phobia of Vomiting

2017 ◽  
pp. 270-290
Author(s):  
Alexandra Keyes ◽  
David Veale
Keyword(s):  
Eating Disorders ◽  
Weight Loss ◽  
Anorexia Nervosa ◽  
Disordered Eating ◽  
Clinical Features ◽  
Food Restriction ◽  
Clinical Case ◽  
Evidence Base ◽  
Specific Phobia ◽  
Case Conceptualization

Some individuals with specific phobia of vomiting (SPOV) (emetophobia) may present with disordered eating, including food restriction and weight loss. Such cases may be misdiagnosed as anorexia nervosa (AN), thus complicating case conceptualization, formulation, and treatment. This chapter outlines the clinical features of SPOV, including those that overlap with AN and other disorders. Treatment approaches and their evidence base are discussed, and a clinical case example of an individual with SPOV and disordered eating is presented. More research is needed to address the overlap between eating disorders and SPOV in order to better distinguish overlaps in presentation and to develop treatments that effectively target the central fears in these cases.

scholarly journals Prevalence, clinical features and treatment pattern of patients with concurrent diagnoses of rheumatoid arthritis and psoriatic disease: results of a 14-year retrospective study in a tertiary referral center

2019 ◽  
Vol 10 ◽  
pp. 204062231984790
Author(s):  
Kai-Lung Chen ◽  
Hsien-Yi Chiu ◽  
Jui-Hsiang Lin ◽  
Jian-De Ye ◽  
Yi-Hsuan Cho ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Clinical Features ◽  
Age Of Onset ◽  
Medical Center ◽  
Skin Lesions ◽  
Tertiary Referral ◽  
Female Ratio ◽  
Tertiary Referral Center ◽  
Referral Center ◽  
Psoriatic Disease

Background: Multiple comorbidities, including rheumatoid arthritis (RA), have been reported to be associated with psoriasis. Objective: This study aimed to determine the prevalence and the clinical features of RA among patients with psoriasis in a tertiary referral center. Methods: Between January 2000 and December 2013, all patients coded with psoriatic disease (ICD-9 CM 696.0 OR ICD-9 CM696.1) and RA (ICD-9 CM 714.0) in a tertiary medical center were enrolled. Results: There were 10,844 patients and 9073 patients with psoriatic disease and RA identified by diagnostic codes, respectively. Among patients with psoriasis, 111 patients had claim-based diagnosis of RA (1.02%). By reviewing medical records and telephone interview or clinic visits, 25 of the 111 patients (0.23%) was identified unequivocally as having concurrent RA. Among them, 17 (68%) were female and 16 (64%) patients developed arthritis prior to the onset of psoriasis with a mean lag of 6.3 years (1–19 years); 8 (32%) had psoriasis skin lesions prior to the onset of arthritis with a mean lag of 6.9 years (3–20 years); 1 (4%) had skin lesions and arthritis in the same time; 17 (68%) patients also fulfilled the CASPAR classification criteria for psoriatic arthritis. The mean age of onset for arthritis was 49.6 years old. Conclusions: The prevalence of RA in psoriasis might be overestimated in some previous studies using claimed database. Patients with concurrent RA and psoriasis showed a comparable age of onset and male to female ratio, but had more axial involvements compared to patients without psoriasis.

scholarly journals Acral Eruptive Syringoma: An Unusual Presentation with Misdiagnosis

2020 ◽  
Vol 2020 ◽  
pp. 1-2
Author(s):  
Fatemeh Mohaghegh ◽  
Akramsadat Amiri ◽  
Farahnaz Fatemi Naeini ◽  
Parvin Rajabi ◽  
Maryam Soltan
Keyword(s):  
Rare Variant ◽  
Rare Case ◽  
Skin Lesions ◽  
Unusual Presentation

Eruptive syringoma is a rare variant of syringoma presenting with skin-colored or slightly pigmented papules mostly before or during puberty. In this report, we presented a rare case of eruptive syringoma in a 30-year-old woman. She exhibited multiple skin lesions in dorsal areas of her both hands, developed from the age of 15.

scholarly journals Genotypic characteristics of Chinese patients with BHD syndrome and functional analysis of FLCN variants

2019 ◽  
Vol 14 (1) ◽  
Author(s):  
Keqiang Liu ◽  
Wenshuai Xu ◽  
Xinlun Tian ◽  
Meng Xiao ◽  
Xinyue Zhao ◽  
...  
Keyword(s):  
Clinical Features ◽  
Spontaneous Pneumothorax ◽  
Mutation Screening ◽  
Skin Lesions ◽  
Mrna Splicing ◽  
Mutation Spectrum ◽  
Chinese Patients ◽  
Renal Tumors ◽  
Lung Cysts ◽  
Splicing Pattern

Abstract Background Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant disease featured by lung cysts, spontaneous pneumothorax, fibrofolliculomas and renal tumors. The causative gene for BHDS is the folliculin (FLCN) gene and more than 200 mutations have been reported in FLCN, mostly truncating mutations. The aim of this study is to better characterize the clinical features and mutation spectrum of Chinese BHDS patients and to systematically evaluate the effects of non-truncating mutations on mRNA splicing pattern. Methods We enrolled 47 patients from 39 unrelated families with symptoms highly suggestive of BHDS after informed consent and detailed clinical data were collected. Exon sequencing followed by multiplex ligation-dependent probe amplification testing were applied for mutation screening. The effects of non-truncating mutations, including 15 missense mutations and 6 in-frame deletions, on mRNA splicing were investigated by minigene assays. Results A total of 24 FLCN germline variants were found in 39 patients from 31 distinct families. Out of these patients, 100% (36/36) presented with lung cysts and 58.3% (21/36) had experienced spontaneous pneumothorax. Seventeen mutation carriers had skin lesions (47.2%, 17/36) and 9 (30%, 9/30) had kidney lesions including 8 with renal cysts and 1 with renal hamartoma. Among all detected variants 14 (58.3%, 14/24) were novel, including 11 variants classified to be pathogenic and 3 variants of uncertain significance. None of 21 non-truncating mutations changed the mRNA splicing pattern of minigenes. Conclusions We found different clinical features of Chinese BHDS patients compared with Caucasians, with more lung cysts and pneumothorax but fewer skin lesions and malignant renal cancer. Chinese patients with BHDS also have a different mutation spectrum from other races. Non-truncating mutations in FLCN did not disrupt mRNA splicing pattern, in turn supporting the hypothesis that these mutations impair folliculin function by disrupting the stability of the FLCN gene product.

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