Familial Case of Darier Disease with Guttate Leukoderma: A Case Series from India

نویسندگان

  • Naveen Kumar Kansal
  • Neirita Hazarika
  • Shalinee Rao
چکیده

62 Indian Dermatology Online Journal | Volume 9 | Issue 1 | January‐February 2018 Sir, Darier disease [DD; Darier‐White disease or (dys) keratosis follicularis], is an autosomal dominant disorder of keratinization with characteristic dermatologic findings such as keratotic papules on the seborrheic regions, brittle nails and longitudinal erythronychia, and palmoplantar pitting. Hypopigmented macules (guttate leukoderma or predominantly “idiopathic guttate hypomelanosis”) is known to be a rare finding in certain disorders of keratinization, e.g., DD, Grover disease, and Cole disease (guttate hypopigmentation with palmoplantar hyperkeratosis).[1,2] Here, we report 2 new cases of this association.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Familial Cleidocranial Dysplasia in a Neonate: A Case Report

Background: Cleidocranial dysplasia (CCD) is a rare inherited skeletal dysplasia, with an incidence of 1 case per 1000,000 individuals. It is a form of predominantly autosomal dominant inheritance and is associated with a mutation in runt related transcription factor-2 gene mapped on chromosome 6p21. This disease primarily affects the bones formed by intramembranous ossification and is characte...

متن کامل

Inflammatory myopathies in a patient with Darier\'s disease, a possible association

Background: Darier disease (DD) is an autosomal dominant genetic disorder which develops from a mutation in the ATP2A2 gene. Inflammatory myopathies (IM) are the largest group of potentially treatable myopathies. In this case, we report development of IM in a patient with DD for the second time in the literature. Case presentation: The patient is a 59-year-old female, a known case of  DD,...

متن کامل

Darier disease and Hailey-Hailey disease.

Darier disease (DD) and Hailey-Hailey disease (HHD) are autosomal dominantly inherited genodermatosis, caused by mutations in ATP2A2 gene and ATP2C1 respectively. We investigated clinical and laboratory two patients - a men with Darier disease and a woman with Hailey-Hailey disease. The patient with Darier disease has mucosal lesions and dental modifications associated with mild mental retardat...

متن کامل

Solitary Head and Neck Cysticercosis: A Series of Rare Cases

Introduction: Cysticercosis is a disease which is caused by the infestation of the larvae Taenia solium, with humans acting as an intermediate host instead of a definitive host. Head and neck involvement including maxillofacial and oral involvement of cysticercosis is quite rare.  Case Report: We report a series of rare cases of cysticercosis of the head and neck region encountered in a tertia...

متن کامل

Practice of Consanguinity and Unusual Cases of Inherited Familial Chromosome Abnormalities: A Case Report

We present 2 cases of likely rare event. In case 1, 3rd degree consanguineous marriage revealed inv(6) with same break points in parents who were found to be phenotypically normal. The same inv(6) being inherited in progeny but presented with low AMH (anti Mullerian hormone) and high level of FSH (follicular stimulating hormone) leading to polycystic ovarian syndrome/premature ovarian failure. ...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:

دوره 9  شماره 

صفحات  -

تاریخ انتشار 2018