scholarly journals Keratolytic Winter Erythema: a misdiagnosed palmoplantar dermatosis

2021 ◽  
Vol 7 (3) ◽  
pp. 469
Author(s):  
Vidya Kharkar ◽  
Anmol Bhargava
Keyword(s):  
Case Report ◽  
South African ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Unknown Etiology ◽  
Autosomal Dominant Disorder ◽  
European Descent ◽  
African Families ◽  
Relevant Family History ◽  
Variable Penetrance

<p class="abstract">Keratolytic Winter Erythema, also known as ‘Erythrokeratolysis hiemalis’ or ‘Oudtshoorn disease’ is a rare genetic disorder of keratinization of an unknown etiology characterized by cyclical erythema and intermittent skin peeling usually over palms and soles, particularly during winter.It was originally described in South African families of European descent originating from the Oudtshoorn district of Cape Provence, and has been since identified in several other countries. It is an autosomal dominant disorder with variable penetrance. The condition <a name="_Hlk67093214"></a>is often misdiagnosed as Keratolysis exfoliativa, but presence of a relevant family history, winter exacerbation and preceding hyperhidrosis with interdigital involvement differentiate it from the former. We present a case report with clinical histopathological data of an 18-year-old female with attributes of erthrokeratolysis hiemalis. This case is being reported due to its rarity.</p>

scholarly journals Familial Hypocalciuric Hypercalcaemia (FHH): A Case Report

2018 ◽  
Vol 3 (09) ◽  
Author(s):  
Tivya Kulasegaran ◽  
Pranav Kumar
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Parathyroid Hormone ◽  
Autosomal Dominant ◽  
Genetic Test ◽  
Calcium Sensor ◽  
Clearance Ratio ◽  
Autosomal Dominant Disorder ◽  
Casr Gene ◽  
Inactivating Mutation

Familial hypocalciuric hypercalcaemia (FHH) is a rare genetic autosomal dominant disorder, with 3 variants described. An inactivating mutation in the calcium sensor receptor (CASR) gene causes the subtype 1, which represents 65% of the cases. Inactivation of Ca-sensing receptors (CaSR) can also lead to hypercalcemia associated with increased parathyroid hormone (PTH) secretion.[1] It is characterised by causes mild asymptomatic hypercalcemia[2] and hypocalciuria with normal or elevated PTH. FHH is generally asymptomatic and treatment is not needed. Differential diagnosis with primary hyperparathyroidism (PHPT) is crucial and based on calcium-creatinine clearance ratio (CCCR), which, when under 0.02 points to the diagnosis of FHH.[3] Genetic test is necessary for confirmation.[4]

scholarly journals Steatocystoma Multiplex of Scortum- Rare Genetic Disorder: A Case Report and Review of Literature

2016 ◽  
Vol 33 (4) ◽  
pp. 218-221
Author(s):  
Moni Mohan Saha ◽  
Sukumar Saha ◽  
Ratan Lal Datta Banik ◽  
Md Mokter Hossain
Keyword(s):  
Case Report ◽  
Microscopic Examination ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Review Of Literature ◽  
Dominant Mutation ◽  
College Hospital ◽  
Medical College ◽  
Steatocystoma Multiplex ◽  
Keratin 17

A 25 years old male attended the skin & VD outpatient department of Khulna Medical College Hospital on 16th June, 2013 with complaints of multiple asymptomatic small rounded firm, cystic nodules that are adherent to the overlying skin of scortum. The microscopic examination of the cystic nodules showed the features of steatocystoma multiplex. This disorder, although it is asymptomatic, is a cosmetic threat to the patient. Only a few cases of the patients with an autosomal dominant mutation, who had keratin 17; have been reported. We are reporting here a case of steatocystoma multiplex of scortum in a 25 years old male along with review of literature.J Bangladesh Coll Phys Surg 2015; 33(4): 218-221

scholarly journals Piebaldism in a 3-month-old infant: Case report

2014 ◽  
Vol 67 (3-4) ◽  
pp. 109-110
Author(s):  
Olgica Milankov ◽  
Radojica Savic ◽  
Anica Radulovic
Keyword(s):  
Case Report ◽  
Family History ◽  
Autosomal Dominant ◽  
Male Infant ◽  
Congenital Absence ◽  
Skin Involvement ◽  
Left Forearm ◽  
Autosomal Dominant Disorder ◽  
And Migration ◽  
Infant Case

Introduction. Piebaldism is an autosomal dominant disorder characterized by the congenital absence of melanocytes in the affected areas of skin and hair due to mutations of the KIT protooncogene, which affects the differentiation and migration of melanoblasts. Case report. A 3 ? month old male infant was admitted to hospital due to depigmentation of skin in the area of forehead, trunk and extremities. On admission, he had multiple, irregularly shaped areas of leucoderma present at the forehead, abdomen, lower legs and left forearm. Based on the characteristic skin features and family history, we diagnosed the boy?s leucoderma as piebaldism. Conclusion. Vitiligo differs from piebaldism by the presence of unstable hypopigmented lesions that are acquired later in life. Albinism presents with widespread skin involvement and lacks the characteristic hyperpigmented macules within hypopigmented areas.

scholarly journals Diagnosis of Achondroplasia at Birth: A Case Report

2020 ◽  
Vol 58 (222) ◽  
Author(s):  
Suzit Bhusal ◽  
Uttara Gautam ◽  
Rajan Phuyal ◽  
Robin Choudhary ◽  
Sunil Raja Manandhar ◽  
...  
Keyword(s):  
Case Report ◽  
Vaginal Delivery ◽  
Autosomal Dominant ◽  
Fibroblast Growth Factor Receptor ◽  
Genetic Disorder ◽  
Radiological Finding ◽  
Growth Factor Receptor ◽  
Fibroblast Growth ◽  
Spontaneous Vaginal Delivery ◽  
Antenatal Ultrasonography

Autosomal dominant mutations in fibroblast growth factor receptor 3 cause achondroplasia, the most common form of dwarfism in humans. Achondroplasia is a genetic disorder causing rhizomelic shortening of limbs. Head is often large with prominent forehead causing vaginal delivery difficult. A twenty-one years old multipara mother gave birth to a baby with achondroplasia via spontaneous vaginal delivery with episiotomy without any complication. Achondroplasia, in this case, was diagnosed on the basis of antenatal ultrasonography finding, clinical features and radiological finding of the baby. He was admitted in the special baby care unit for observation and discharged on the next day as no complications were noted.

scholarly journals Gorlin-Goltz Syndrome - An Unusual Case Report

2016 ◽  
Vol 5 (1) ◽  
pp. 1071
Author(s):  
B. Thayumanavan ◽  
T. Jeyanthikumari ◽  
P. Meghalapriya
Keyword(s):  
Case Report ◽  
Unusual Case ◽  
Autosomal Dominant ◽  
Keratocystic Odontogenic Tumor ◽  
Review Of Literature ◽  
Autosomal Dominant Disorder ◽  
Goltz Syndrome ◽  
Multisystemic Disease ◽  
Consistent Feature ◽  
Unusual Case Report

Gorlin-Goltz syndrome is an uncommon autosomal dominant disorder manifesting as a multisystemic disease. Keratocystic odontogenic tumor (KCOT) is considered as the most consistent feature of this syndrome. Dentists play a key role in making early diagnosis of this syndrome. Here we present a case of Gorlin- Goltz syndrome identified by multiple multilocular radiolucencies in the mandible. A review of literature of different diagnostic criteria for Gorlin-Goltz syndrome is also discussed.

scholarly journals Progressive symmetrical erythrokeratodermia - Case report*

2013 ◽  
Vol 88 (1) ◽  
pp. 109-112 ◽  
Author(s):  
Bianca de Mello Guaraldi ◽  
Thaís Jerez Jaime ◽  
Rafael de Mello Guaraldi ◽  
Daniel Fernandes Melo ◽  
Osvania Maris Nogueira ◽  
...  
Keyword(s):  
Case Report ◽  
Autosomal Dominant ◽  
Late Diagnosis ◽  
The Face ◽  
Variable Penetrance

Progressive symmetrical erythrokeratodermia is a rare autosomal dominant genodermatosis with variable penetrance described by Darier in 1911. It is characterized by erythematous and keratotic plaques, sharply defined and symmetrically distributed along the extremities, buttocks and, more rarely, on the face. We report a case of a 55-year-old patient with lesions on the dorsum of the hands, interphalangeal pads, wrists, groin and back feet. This case demonstrates a rare and late diagnosis, clinical profusion and presence of familiar involvement.

scholarly journals Simultaneous Occurrence of Duane Retraction Syndrome with Marfan Syndrome

2011 ◽  
Vol 2011 ◽  
pp. 1-3 ◽  
Author(s):  
Mihir Kothari ◽  
Florence Manurung ◽  
Bhavesh Mithiya
Keyword(s):  
Case Report ◽  
Connective Tissue ◽  
Marfan Syndrome ◽  
Autosomal Dominant ◽  
Simultaneous Occurrence ◽  
Autosomal Dominant Disorder ◽  
First Case ◽  
Retraction Syndrome ◽  
Congenital Cranial Dysinnervation Disorder ◽  
Duane Retraction Syndrome

Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue, while Duane retraction syndrome (DRS) is a congenital cranial dysinnervation disorder (CCDD) which can be transmitted as autosomal dominant disorder in 5–10% of patients. In this paper, we present an 8-year-old girl who presented with left eye DRS and bilateral subluxation of the lens associated with MFS in absence of familial involvement. To our knowledge this is the first case report of DRS with MFS. The occurrence of these syndromes together is very rare and appears to be coincidental.

scholarly journals Do you know this syndrome?

2013 ◽  
Vol 88 (3) ◽  
pp. 473-475 ◽  
Author(s):  
Laura Maria Andrade Silveira ◽  
Andreia Nogueira Ramos ◽  
Isadora Rosado do Amaral ◽  
Vitoria Regina Pedreira de Almeida Rego
Keyword(s):  
Case Report ◽  
Female Patient ◽  
Autosomal Dominant ◽  
Congenital Abnormalities ◽  
Clinical Presentation ◽  
Current Knowledge ◽  
Genetic Disorder ◽  
Mucous Membranes ◽  
Form Part

Congenital Hypertrichosis Lanugionsa is a rare autosomal dominant genetic disorder, with fewer than 50 cases reported in the literature. It is characterized by excessive lanugo hair, sparing only the mucous membranes, palms and soles. It may be associated with other organic abnormalities and should form part of the dermatologist's current knowledge. We discuss some aspects of the syndrome in question arising from the case report of a 2-year-old female patient, black, with classic clinical presentation, with no other associated congenital abnormalities.

scholarly journals Myxofibrosarcoma harboring an MLH1 pathogenic germline variant associated with Muir-Torre syndrome: a case report

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Makoto Nakagawa ◽  
Eisuke Kobayashi ◽  
Masayoshi Yamada ◽  
Tomoko Watanabe ◽  
Makoto Hirata ◽  
...  
Keyword(s):  
Case Report ◽  
Genetic Analysis ◽  
High Frequency ◽  
Sebaceous Gland ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Small Subset ◽  
Case Presentation ◽  
Germline Variant ◽  
First Case

Abstract Background Muir–Torre syndrome (MTS), which accounts for a small subset (1–3 %) of Lynch syndrome (LS), is an autosomal dominant genetic disorder characterized by sebaceous gland or keratoacanthoma associated with visceral malignancies. Most families with MTS have pathogenic germline variants (PGV) in MSH2. Sarcomas are not common on the LS tumor spectrum, and sarcomas associated with MTS are extremely rare. Case presentation Here we report a myxofibrosarcoma of the abdominal wall in a 73-year-old man with a sebaceoma that occurred synchronically, leading to a diagnosis of MTS. The loss of MLH1 and PMS2 protein expression was detected in immunohistochemistry, and high-frequency microsatellite instability (MSI-H) was also confirmed. A germline genetic analysis revealed that he harbored the MLH1 PGV. Conclusions This is the first case of MSI-H myxofibrosarcoma with MTS in an MLH1 PGV carrier. Although rare, we should recognize that sarcomas can be part of the spectrum of LS and MTS.

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