scholarly journals Mixed Variant of Acrokeratosis verruciformis of Hopf: A rare entity

2021 ◽  
Vol 19 (2) ◽  
pp. 54-57
Author(s):  
Sonia P Jain ◽  
Pratiksha Sonkusale ◽  
Abhay Vilas Deshmukh ◽  
Pallavi Kumari
Keyword(s):  
Family History ◽  
Family Member ◽  
Autosomal Dominant ◽  
Unknown Etiology ◽  
Rare Entity ◽  
Similar Lesion ◽  
Hands And Feet ◽  
Mixed Variant

Acrokeratosis verruciformis of Hopf (AKV) is a rare autosomal dominant genodermatosis of unknown etiology. Here we present a case of a 20-year-female with multiple skin-colored flat papules over the dorsum of hands and feet interspersed with multiple hypopigmented macular lesions of 5 years duration. No family member showed a similar lesion. The presence of classical AKV with absent family history and definite histopathology findings make this case an unusual and rare entity.

SMAD4 juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia presenting in a middle-aged man as a large fungating gastric mass, polyposis in both upper and lower GI tract and iron deficiency anaemia, with no known family history

2020 ◽  
Vol 13 (12) ◽  
pp. e236855
Author(s):  
Wendy Chang ◽  
Patricia Renaut ◽  
Casper Pretorius
Keyword(s):  
Family History ◽  
Autosomal Dominant ◽  
Signs And Symptoms ◽  
Juvenile Polyposis ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
Gi Tract ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome ◽  
History Of ◽  
Gastric Mass

Juvenile polyposis syndrome (JPS) and hereditary haemorrhagic telangiectasia (HHT) are rare autosomal dominant diseases, where symptoms manifest at childhood. A 32-year-old man with no family history of JPS or HHT with SMAD4 gene mutation who developed signs and symptoms only at the age of 32, when he was an adult. In this article, we highlight the steps taken to diagnose this rare pathology, explain its pathophysiology and management.

scholarly journals Erythromelanosis Follicularis Faciei et Colli: A Case Report in a Caucasian Male and Brief Review of the Literature

2020 ◽  
Vol 12 (3) ◽  
pp. 231-235
Author(s):  
Carl Maximilian Thielmann ◽  
Wiebke Sondermann
Keyword(s):  
Case Report ◽  
Family History ◽  
Clinical Presentation ◽  
Rare Condition ◽  
Unknown Etiology ◽  
Review Of The Literature ◽  
Caucasian Male

Erythromelanosis follicularis faciei et colli, a rare condition of unknown etiology, was first described by Kitamura et al. from Japan in 1960. It is characterized by a triad consisting of well-demarcated erythema, hyperpigmentation, and follicular papules. We report the case of a 50-year-old Caucasian male, who had asymptomatic symmetrical facial lesions since the age of 42. His family history was unremarkable. Published erythromelanosis follicularis faciei et colli cases of the last 10 years are summarized in this report to demonstrate the variability and differences in the clinical presentation of this uncommon diagnosis.

scholarly journals Brooke-Spiegler Syndrome: A Rare Entity

2014 ◽  
Vol 2014 ◽  
pp. 1-3
Author(s):  
Monika Rathi ◽  
Seema Awasthi ◽  
Satish Kumar Budania ◽  
Faiyaz Ahmad ◽  
Shyamoli Dutta ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Histopathological Examination ◽  
Clinical History ◽  
Rare Entity ◽  
Adnexal Tumors

Brooke-Spiegler syndrome is a rare entity. It is an autosomal dominant syndrome in which multiple trichoepitheliomas, cylindromas, or other adnexal tumors are seen. Very few cases of Brooke-Spiegler syndrome are reported in the literature. We came across a 40 -year-old female in which multiple trichoepitheliomas and cylindromas were seen on scalp. In view of clinical history and histopathological examination it was diagnosed as Brooke-Spiegler syndrome. We report this case because of its rarity.

scholarly journals Tripod-shaped Syndactyly in Apert Syndrome with FGFR2 p.P253R Mutation

2021 ◽  
Author(s):  
Chandra Bhan Singh ◽  
Biswajit Mishra ◽  
Rashmi Patel ◽  
Ashok Kumar ◽  
Akhtar Ali
Keyword(s):  
Autosomal Dominant ◽  
Growth Factor Receptor ◽  
Sporadic Case ◽  
Apert Syndrome ◽  
Nasal Bridge ◽  
Craniofacial Dysmorphism ◽  
Fgfr2 Gene ◽  
Craniofacial Features ◽  
Ocular Hypertelorism ◽  
Hands And Feet

AbstractApert syndrome is a rare acrocephalosyndactyly (craniosynostosis) syndrome characterized by craniofacial dysmorphism and syndactyly of the hands and feet. It is caused by FGFR2 mutations and inherited in an autosomal dominant manner. This article describes a novel clinical variant of Apert syndrome having bilateral symmetrical tripod-shaped syndactyly in hands with milder craniofacial features in a sporadic case, along with a mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. The patient had shown craniosynostosis, dysmorphic face, ocular hypertelorism, marked depression of the nasal bridge, long philtrum, and low set ears. Direct resequencing of the FGFR2 gene through Sanger’s method identified a heterozygous missense mutation; FGFR2c.758C>G (FGFR2p.P253R) in the exon-7 of the gene.

scholarly journals Syndrome D’aniridie Associé À La Dermatite Atopique: À Propos D’un Cas

2016 ◽  
Vol 12 (6) ◽  
pp. 97
Author(s):  
Abba Kaka H.Y ◽  
Salissou L. ◽  
Amza A. ◽  
Daou M.
Keyword(s):  
Family History ◽  
Autosomal Dominant ◽  
Positive Family History ◽  
Consanguineous Marriage ◽  
Dominant Mode ◽  
Ocular Lens ◽  
Lens Implantation ◽  
History Of ◽  
Genetic Anomaly

Aniridia syndrome is a genetic anomaly affecting all ocular structures; it is transmitted by an autosomal dominant mode. In its isolated form aniridia is characterized by a hypoplasia of the iris frequently associated with other ocular anomalies. It the syndromic form it is associated to other systemic abnormalities. Authors are here reporting a case of aniridia associating: a corneal pannus, total aniridia, lens ectopia, and cataract found in a 14 years old girl. She also presented an atopic background with a positive family history of atopia. She is issued from a first degree consanguineous marriage. The management was multidisciplinary. In ophthalmology she underwent an intra-capsular extraction of the lens in both eyes with no intra-ocular lens implantation. Dermatological management was treatment of cuteanous lesions with emollients, corticoids and antihistamines drugs and ointments.

Familial Pityriasis Rubra Pilaris: Case Report and Review

2013 ◽  
Vol 17 (4) ◽  
pp. 226-232 ◽  
Author(s):  
Joshua M. Mercer ◽  
Chitra Pushpanthan ◽  
Canagasundrum Anandakrishnan ◽  
Ian D.R. Landells
Keyword(s):  
Autosomal Dominant ◽  
Pediatric Population ◽  
Severe Disease ◽  
Topical Therapy ◽  
Rare Condition ◽  
Unknown Etiology ◽  
Pityriasis Rubra Pilaris ◽  
Gradual Onset ◽  
Systemic Treatments ◽  
Appropriate Therapy

Background: Pityriasis rubra pilaris (PRP) is a rare dermatosis of unknown etiology. Most cases of PRP are sporadic; however, rare cases of familial PRP have been reported. Objectives: To present a case of PRP inherited in an autosomal dominant (AD) fashion and to evaluate the current literature on familial PRP and formulate a comprehensive, up-to-date summary of this rare condition. Methods: PubMed was used to conduct a search for articles pertaining to familial PRP published through May 2011. Results: The first documented case was published in 1910, and 36 subsequent familial cases of PRP have been reported. Familial PRP typically presents very early in childhood, has a gradual onset, and persists throughout life. Given the rarity of this subtype, determining the best therapy has been a challenge. In the pediatric population, a conservative treatment approach, including topical therapy, is frequently used, whereas systemic treatments are reserved for patients with a severe disease that is refractory to therapy. Conclusion: Rare cases of PRP inherited in an AD fashion have been described and tend to have a chronic clinical course and are treatment refractory. Therefore, the awareness of familial PRP is important for early and accurate diagnosis and administration of appropriate therapy.

An elderly lady with multiple blisters all over the body: Hailey Hailey Disease

2019 ◽  
Vol 31 (1) ◽  
pp. 29-32
Author(s):  
Tanzina Nuhat Sharma ◽  
Lima Saha ◽  
Mohiuddin Sharif ◽  
Md Mahfuzul Haque ◽  
Md Robed Amin
Keyword(s):  
Cell Adhesion ◽  
Family History ◽  
Epithelial Cell ◽  
Viral Infection ◽  
Calcium Metabolism ◽  
Autosomal Dominant ◽  
The Body ◽  
Minor Trauma ◽  
Brick Wall ◽  
Severe Attack

Hailey-Hailey disease (HHD) is an autosomal-dominant genodermatosis, associated with abnormal epithelial cell adhesion due to altered calcium metabolism. Clinical features involve painful red blisters, erosions, fissured and hypertrophic plaques predominantly in the intertriginous areas. Heat, friction, minor trauma, superimposed bacterial or viral infection can aggravate the condition. Here, we report a case of a 50-year old lady with no previous family history presented with severe attack of HHD since last 5 months. Histology showed acantholysis of keratinocytes resembling characteristic dilapidated brick wall appearance in the epidermis layer of skin which helped for the confirmed diagnosis. Bangladesh J Medicine Jan 2020; 31(1) : 29-32

scholarly journals Muir-Torre Syndrome: The Importance of a Detailed Family History

2019 ◽  
Vol 10 (2) ◽  
pp. 180-185
Author(s):  
Christopher K.H. Burris ◽  
Maria E. Rodriguez ◽  
Meisha L. Raven ◽  
Devasis N. Reddy ◽  
Yaohui G. Xu ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Family History ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Autosomal Dominant ◽  
Skin Neoplasms ◽  
Skin Lesions ◽  
Hereditary Nonpolyposis ◽  
Detailed Family History ◽  
Dominant Disease ◽  
Typical Skin

Muir-Torre syndrome, a variant of Lynch syndrome or hereditary nonpolyposis colorectal cancer, is an autosomal dominant disease characterized by skin neoplasms (sebaceous or keratoacanthomas) and visceral malignancies. Due to the rarity of the syndrome there are no firm guidelines on how and when to test patients with its typical skin lesions. We describe a case that highlights the importance of a detailed family history.

scholarly journals Milroy’s Disease - The Rarest Cause of Lymphedema

1970 ◽  
Vol 11 (2) ◽  
pp. 189-192
Author(s):  
Faizul Islam Chowdhury ◽  
Ahmedul Kabir ◽  
Jayanta Banik ◽  
Pinaki Paul ◽  
Matiur Rahman ◽  
...  
Keyword(s):  
Family History ◽  
Autosomal Dominant ◽  
Positive Family History ◽  
Chromosome 5Q

Milroy’s disease is an old term used to describe hereditary congenital lymphedema. It is the rarest of the inheritedlymphedema. The cause is a mutation in the VEGFR3 gene and is inherited in an autosomal dominant manner. Thisgene has been mapped to the telomeric part of the chromosome 5q in the region 5q34-q35. It is characterized bylower limb lymphedema, present at birth or developing soon after. It may be associated with intestinal lymphangiectasiaand cholestasis. Here we report a 57 years old male who had been suffering from bilateral leg swelling since birth andfinally leveled as a case of Milroy’s disease by positive family history and excluding other causes of lymphedema. Wepresent this case due to the rarity of its occurrence.Keywords: Milroy’s Disease; LymphedemaDOI: 10.3329/jom.v11i2.5471J MEDICINE 2010; 11 : 189-192

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