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Iliana Tantcheva-Poór, Vinzenz Oji, Cristina Has
Recent advances in genetic technology have found their way into clinical dermatology. Approximately one third of all hereditary disorders show characteristic cutaneous findings. Moreover, human skin easily provides samples for studying the mechanisms of genetic mosaicism, as well as the underlying functional defects due to mutated proteins. Diagnosing hereditary skin disorders remains, however, a challenging task due to the rarity of genodermatoses and their diversity, overlapping or heterogeneous phenotypes, huge amount of new information, and complicated nomenclature and classifications...
October 2016: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
Ioannis Karagiannidis, Martina Brunner, Christos C Zouboulis
Darier disease/dyskeratosis follicularis is a genodermatosis characterized by brown, oily keratotic papules and plaques in the seborrheic areas of the face and chest. Responsible for the disease are mutations in the ATP2A2 gene, encoding SERCA2, a calcium pump of the sarco-/endoplasmic reticulum. Mechanical trauma, heat, humidity, ultraviolet B radiation, oral corticosteroids and lithium are known trigger factors of the disorder. We report on a 48-year-old German woman with a flare-up of Darier disease under interferon-α-2a (IFNα-2a) therapy with clinical signs of lichen nitidus...
May 2016: Case Reports in Dermatology
Cintia Arjona Aguilera, Raquel De la Varga Martínez, Lidia Ossorio García, David Jiménez-Gallo, Cristina Albarrán Planelles, Mario Linares Barrios
Brooke-Spiegler Syndrome (BSS) is a rare genodermatosis characterized by the progressive formation of adnexal skin tumors in the scalp and face, mainly trichoepitheliomas, cylindromas, and spiradenomas. It has also been associated with salivary glands neoplasms. It is due to mutations in the tumor suppressor gene cylindromatosis (CYLD gene) localized on chromosome 16q12-q13. Around 93 mutations have been described. The study of CYLD gene in patients and their relatives is of vital importance to establish the molecular diagnosis and offer appropriate genetic counseling...
September 2016: Indian Journal of Dermatology
Silvia Potenziani, Danielle Applebaum, Bhuvaneswari Krishnan, Carolina Gutiérrez, A Hafeez Diwan
Cowden Syndrome (CS) is an uncommon autosomal dominant multiorgan/system genodermatosis. It is characterized by the development of multiple hamartomas of endodermal, mesodermal and ectodermal origin, an increased lifetime risk of breast, thyroid, endometrial, and other cancers and an identifiable germline mutation. Mucocutaneous hamartomas are the most common lesions seen and mainly include facial trichilemmomas, oral mucosal papillomas, and benign acral keratoses. Herein, we report a case of a 63-year-old Caucasian male with a long-established diagnosis of CS and history of thyroid cancer, colonic polyps, and innumerable trichilemmomas, seborrheic keratoses, squamous papillomas, and non-melanoma skin cancers excised in the past...
September 28, 2016: Journal of Cutaneous Pathology
W H I McLean
The main proteinaceous component of the keratohyalin granules within the granular layer keratinocytes of the epidermis is the giant, repetitive polyprotein profilaggrin. When granular layer cells commit to terminal differentiation to form the flattened squames of the stratum corneum, profilaggrin is rapidly cleaved into multiple copies of the 37 kDa filaggrin monomer, which binds to and condenses the keratin cytoskeleton, thereby facilitating cellular compression. Within the stratum corneum, filaggrin is broken down to form natural moisturising factor, a pool of amino acids and derivatives thereof that exerts multiple effects...
October 2016: British Journal of Dermatology
Philip R Cohen
BackgroundSegmental neurofibromatosis, referred to as mosaic neurofibromatosis 1, patients present with neurofibromas or café au lait macules or both in a unilateral segment of the body.PurposeA woman with segmental neurofibromatosis and triple cancer (renal cell carcinoma, mixed thyroid carcinoma, and lentigo maligna) is described and cancers observed in patients with segmental neurofibromatosis are reviewed.MethodsPubMed was used to search the following terms, separately and in combination: cancer, malignancy, mosaic, neoplasm, neurofibroma, neurofibromatosis, segment, segmental, tumor...
2016: Dermatology Online Journal
Fátima Tous Romero, Sara Burillo Martinez, Carlos Raya-Morales, Vanessa Gargallo-Moneva, Lidia Maroñas-Jiménez
Darier disease (DD) is an autosomal dominant genodermatosis characterized by multiple keratotic and crusted papules over seborrheic areas, along with a variable involvement of oral mucosa, palmoplantar region, and nails. Segmental subtypes (type 1 and 2) are uncommon clinically limited forms of DD that usually present at middle age with few cutaneous lesions following Blaschko´s lines. We report a case of extensive multi segmental DD type 1 that developed in an elderly man, an unusual clinical onset of DD that dermatologists should bear in mind...
2016: Dermatology Online Journal
Andac Salman, Dilek Seckin Gencosmanoglu, Ayse Deniz Yucelten, Nursel Elcioglu, Gabriele Richard, Cuyan Demirkesen
Keratitis-ichthyosis-deafness (KID) syndrome is a rare genodermatosis causing ichthyosis-like skin lesions, keratitis, and deafness. Herein, we report a patient with this rare syndrome in association with pityriasis lichenoides chronica, which was succesfully treated with narrow-band ultraviolet B phototherapy despite our concerns regarding the increased risk of squamous cell carcinoma, hyperpyrexia, and keratitis.
May 15, 2016: Dermatology Online Journal
Wallace Austin Smith, Austin Cope, Martin Fernandez, Palak Parekh
Epidermolytic Ichthyosis (EI) is a rare autosomal dominant genodermatosis. Although an inherited disorder, 50% of cases represent novel mutations. This disorder presents as a bullous disease in newborns progressing to a lifelong ichthyotic skin disorder.  Other manifestations include palmoplantar keratoderma (PPK).  EI results from mutations in the keratin 1 and keratin 10 genes. Phenotypic variability is seen in affected individuals based on the genotypic mutation.  We present a mother and her newborn son with EI and prominent PPK in the mother, which also developed in the child at a few months of age...
2016: Dermatology Online Journal
Rezvan Rafatjoo, Amene Taghdisi Kashani
Incontinentia pigmenti is a rare genodermatosis in which the skin involvement occurs in all patients. Additionally, other ectodermal tissues may be affected such as the central nervous system, eyes, hair, nails and teeth. The disease has an X-linked dominant inheritance pattern. But in our case, there was a mutation in the body cells due to incontinentia pigmenti. The dermatological findings occur in four successive phases. We report the case of a 10-year-old female presented cutaneous, dental and ophthalmic characteristic with 3 years follow-up...
September 2016: Journal of Dentistry
Vitali Alexeev, Adele Donahue, Jouni Uitto, Olga Igoucheva
BACKGROUND: Dystrophic epidermolysis bullosa (DEB), a rare genodermatosis, is characterized by the formation of intra-epidermal blistering and the development of chronic nonhealing skin wounds. Recently, attempts have been made to develop cell-based therapies for this currently intractable disorder. The molecular mechanisms that govern directional migration of the adult stem cells, allowing their efficient and controlled homing to the skin affected with DEB, are poorly understood. The key mechanism that regulates recruitment of leukocytes and progenitor stem cells to distal anatomical tissues affected with disease is chemotaxis, which depends on the signaling molecules, chemokines, and acts primarily as part of the host defense and repair mechanism...
2016: Stem Cell Research & Therapy
Azzam Alkhalifah, Henri Montaudié, Jean-Philippe Lacour, Michel Lantéri-Minet, Thierry Passeron
Hailey-Hailey disease, also known as familial benign chronic pemphigus, is a rare autosomal dominant genodermatosis characterized by vesicular lesions, painful erosions, fissures and erythematous plaques occurring at sites of friction. UV exposure, sweating, friction, and cutaneous infection can exacerbate the manifestations (1) . Intracellular signalization abnormalities occur due to mutations of the ATP2C1 gene, the coding calcium ion transporter protein SPCA1 on Golgi apparatus, causing intra-epidermal acantholysis responsible for the clinical manifestations (2) ...
August 11, 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
Chaitanya Penmatsa, Sharada Reddy Jampanapalli, Sushma Bezawada, Uday Kumar Chowdary Birapu, Vasantha Kumari Radharapu
Zinsser-Cole-Engmann syndrome also called Dyskeratosis Congenita (DKC) is a rare genodermatosis first described by Zinsser in 1906. Mutations in DKC1 gene is responsible for DKC. It is usually inherited as an X-linked recessive trait, resulting in a striking male predilection. It is characterized by a triad of reticular skin pigmentation, nail dystrophy and mucosal leukoplakia. Complications include predisposition to malignancy and bone marrow failure. Here, we report a case of DKC in a 9-year-old boy with classic triad of signs...
June 2016: Journal of Clinical and Diagnostic Research: JCDR
Dennis Linder, Elena Marinello, Pietro Maria Donisi, Roberto Salmaso, Edoardo Zattra, Anna Zampetti
Darier's disease (DD) is an autosomal dominant inherited genodermatosis which is often under- or misdiagnosed. In the majority of cases, the disease manifests in adolescents or young adults with small brownish-yellow, warty, hyperkeratotic papules in multiple seborrheic areas of the body. Localized DD (LDD) is a clinical variant, first described by Kreibich in 1906; only a few cases are reported in the literature. We described the case of an aged woman presenting with LDD, and we review the literature on this subject...
May 2016: Case Reports in Dermatology
Ewa Stypczyńska, Waldemar Placek, Barbara Zegarska, Rafał Czajkowski
Palmoplantar keratoderma (PPK) is a heterogeneous group of hereditary and acquired disorders characterized by abnormal thickening of the palms and soles. There are three clinical patterns: diffuse, focal, and punctuate. Palmoplantar keratodermas can be divided into the following functional subgroups: disturbed gene functions in structural proteins (keratins), cornified envelope (loricrin, transglutaminase), cohesion (plakophilin, desmoplakin, desmoglein 1), cell-to-cell communication (connexins) and transmembrane signal transduction (cathepsin C)...
June 2016: Acta Dermatovenerologica Croatica: ADC
Jessica Sprague, Joseph W Landau
Birt-Hogg-Dubé syndrome is an uncommon genodermatosis characterized by hair follicle hamartomas and an increased risk of pneumothorax and renal cell carcinoma. Recognition of cutaneous manifestations is essential because it allows for early screening and management of systemic complications. We present the case of an 8-year-old boy with a recently described cystic and comedonal variant of the classic fibrofolliculoma, which had been present since birth.
September 2016: Pediatric Dermatology
Natasha Klimas, Cameron West, Michelle Tarbox
BACKGROUND: Darier's disease is an autosomal dominant genodermatosis typified by hyperkeratotic papules and plaques in a predominately seborrheic distribution. The vesiculo-bullous variant of Darier's disease is rare. Several previously reported cases have demonstrated clinical and microscopic features resembling familial benign chronic pemphigus or Hailey-Hailey disease. OBJECTIVES: The objective of this report is to describe an uncommon presentation of Darier's disease, which has been infrequently described in the literature...
July 12, 2016: Journal of Cutaneous Medicine and Surgery
Olivier Bornert, Patricia Peking, Jeroen Bremer, Ulrich Koller, Peter C van den Akker, Annemieke Aartsma-Rus, Anna M G Pasmooij, Eva M Murauer, Alexander Nyström
Genetic disorders affecting the skin, genodermatoses, constitute a large and heterogeneous group of diseases, for which treatment is generally limited to management of symptoms. RNA-based therapies are emerging as a powerful tool to treat genodermatoses. In this review, we discuss in detail RNA splicing-modulation by antisense oligonucleotides and RNA trans-splicing, transcript-replacement and genome editing by in vitro transcribed mRNAs, and gene knockdown by small interfering RNA and antisense oligonucleotides...
July 4, 2016: Experimental Dermatology
M Castori, S Morlino, M E Sana, M Paradisi, G Tadini, A Angioni, M Malacarne, P Grammatico, M Iascone, F Forzano
Palmoplantar keratoderma-congenital alopecia (PPKCA) syndrome is a rare genodermatosis, with two clinically recognizable forms: dominant (Type 1) and recessive (Type 2). Reports of only 18 patients have been published to date, and the molecular basis of the condition is unknown. We describe two cases with PPKCA Type 2 (PPKCA2), comprising a novel patient, originally reported as an example of autosomal ichthyosis follicularis-atrichia-photophobia syndrome, and the 6-year follow-up of a previously published case...
August 2016: Clinical and Experimental Dermatology
Agnieszka Kalińska-Bienias, Cezary Kowalewski, Sławomir Majewski
In recent years, the two adjacent novel EVER1 and EVER2 genes have been identified, whose mutations are responsible for the development of epidermodysplasia verruciformis (EV). Epidermodysplasia verruciformis is a rare, autosomal recessive genodermatosis associated with increased risk of skin carcinoma. Up to now 7 mutations in the EVER1 gene and 5 mutations in the EVER2 gene have been identified only in EV. It was also determined that the EVER genes belong to a novel gene family, the transmembrane channel-like (TMC) family, and are responsible for properly functioning zinc homeostasis...
April 2016: Postȩpy Dermatologii i Alergologii
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