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A distinct Darier phenotype presenting with confetti-like hypopigmented macules was first described in 1965. Designated as "guttate leukoderma," this skin finding is a rarely-reported presentation of Darier disease. It has been theorized that the mutation in ATP2A2 causes defective E-cadherin, which in turn disrupts the adhesion of melanocytes to keratinocytes, thus leading to impaired dendrite formation, hindered melanin transfer, and ultimately to melanocyte apoptosis. Herein, we contribute a case of a 56-year old woman who presented with the rarely-described guttate leukoderma of Darier disease and acrokeratosis verruciformis of Hopf.
This article was published in the following journal.
Name: Dermatology online journal
Epidermodysplasia verruciformis (EV), a rare dermatologic condition, was first described by Lewandosky and Lutz in 1922. Subsequently, the disease was linked to nonsense mutations in EVER1 and EVER2 w...
Guttate psoriasis is a variant of psoriasis characterized by small, 2- to 10-mm, raindroplike lesions on the skin. Guttate psoriasis is commonly triggered by group A streptococcal pharyngitis. We desc...
We predict the existence of a Floquet topological insulator in three-dimensional two-band systems, the Floquet Hopf insulator, which possesses two distinct topological invariants. One is the Hopf Z in...
In this paper, we consider a system of delay differential equations that models the oncolytic virotherapy on solid tumours with the delay of viral infection in the presence of the innate immune respon...
Hailey Hailey and Darier disease are rare genetic dermatoses. Mutations of 2 genes (ATP2C1 or ATP2A2 respectively) are responsible for the diseases. These genes have a key role in calcium ...
Despite advances in the management of and changes in clinical practice, little is known about the epidemiology, patterns of care and outcomes of rare peritoneal surface malignancies patien...
This is an investigator initiated single institution, open-label study to evaluate the antitumor activity, safety, and tolerability of durvalumab in combination with tremelimumab in subjec...
The recent implementation of European Reference Networks for Rare Diseases (ERNs) is an unprecedented move to improve the care of patients suffering from rare health disorders by transnati...
The DiRiP study will enroll patients (n = 3500) with unclear rare diseases and suspected genetic reasons. In group 1 (n = 500) subjects are clinically characterized in the context of outpa...
An autosomal recessive trait with impaired cell-mediated immunity. About 15 human papillomaviruses are implicated in associated infection, four of which lead to skin neoplasms. The disease begins in childhood with red papules and later spreads over the body as gray or yellow scales.
A group of elements that include SCANDIUM; YTTRIUM; and the LANTHANOID SERIES ELEMENTS. Historically, the rare earth metals got their name from the fact that they were never found in their pure elemental form, but as an oxide. In addition they were very difficult to purify. They are not truly rare and comprise about 25% of the metals in the earth's crust.
Separation of the prickle cells of the stratum spinosum of the epidermis, resulting in atrophy of the prickle cell layer. It is seen in diseases such as pemphigus vulgaris (see PEMPHIGUS) and DARIER DISEASE.
An element of the rare earth family of metals. It has the atomic symbol Y, atomic number 39, and atomic weight 88.91. In conjunction with other rare earths, yttrium is used as a phosphor in television receivers and is a component of the yttrium-aluminum garnet (YAG) lasers.
Inhibitor or Reverse Transcriptases or of RNA-dIrected DNA polymerase.
Acne Dermatology Eczema Psoriasis Wound Care Dermatology is the medical specialty concerned with the diagnosis and treatment of skin disorders (Oxford Medical Dictionary). As well as studying how the skin works, dermatology covers...