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Ceren D Durmaz, John McGrath, Lu Liu, Halil G Karabulut
Focal dermal hypoplasia (FDH), also known as Goltz-Gorlin syndrome, is a rare, multisystemic, X-linked dominant genodermatosis characterized by defective development of mesodermal and ectodermal tissues. Major clinical features of the disorder are skin manifestations, skeletal defects, and developmental eye abnormalities. FDH is caused by heterozygous mutations in the PORCN gene located at Xp11.23, and 90% of individuals with FDH are females. Here, we report a female patient with cutaneous changes, multiple eye anomalies, short stature, and ectrodactyly of the right foot...
March 10, 2018: Cytogenetic and Genome Research
H Yahya
Milia are multiple, small, benign keratin-filled superficial epidermoid cysts which are classified as primary when they occur spontaneously or secondary when they result from skin trauma or disease. Multiple eruptive milia (MEM) refer to a condition characterized by a sudden eruption of a large number of milia. MEM may be familial, occur as part of a genodermatosis, or occur spontaneously when they are termed idiopathic. Idiopathic MEM are an exceedingly rare disease. We present the case of a 70-year-old Nigerian woman with idiopathic MEM...
March 2018: Nigerian Journal of Clinical Practice
Sofia Lopes, Julia Vide, Elisabete Moreira, Filomena Azevedo
Cowden syndrome is a rare genodermatosis of autosomal dominant inheritance characterized by multiple hamartomas in several organs and an increased risk of malignancies. We present the case of a 53-year-old man with a history of benign and malignant thyroid disease, intestinal polyposis, and Chiari malformation. He had several trichilemmomas, papillomatosis of the oral cavity, macular pigmentation of the glans penis, among other clinical features suggestive of Cowden syndrome. Given the suspicion, genetic study was conducted and PTEN mutation was identified...
August 15, 2017: Dermatology Online Journal
T Baltazard, F Dhaille, G Chaby, C Lok
Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia responsible for hypotrichosis. We report the case of a child with monilethrix with no associated cases in the family. Trichoscopy facilitated the diagnosis. A 2-year-old boy presented with diffuse alopecia and persistent fragile hair for several months. Clinical examination revealed alopecia with hairs broken several millimeters from the scalp. Trichoscopy revealed zones of dystrophic constriction of the hair shaft, separated at regular intervals by elliptical nodes of normal thickness, giving a "necklace" appearance...
July 15, 2017: Dermatology Online Journal
A Bauer, J Nimmo, R Newman, M Brunner, M M Welle, V Jagannathan, T Leeb
Hereditary nasal parakeratosis (HNPK), described in the Labrador Retriever breed, is a monogenic autosomal recessive disorder that causes crusts and fissures on the nasal planum of otherwise healthy dogs. Our group previously showed that this genodermatosis may be caused by a missense variant located in the SUV39H2 gene encoding a histone 3 lysine 9 methyltransferase, a chromatin modifying enzyme with a potential role in keratinocyte differentiation. In the present study, we investigated a litter of Greyhounds in which six out of eight puppies were affected with parakeratotic lesions restricted to the nasal planum...
February 9, 2018: Animal Genetics
Abigail Zieman, Pierre A Coulombe
The type I intermediate filament keratin 16 (K16) is constitutively expressed in ectoderm-derived appendages and is inducibly expressed in the epidermis upon barrier-compromising challenges. Dominantly-acting missense alleles in KRT16 are causative for pachyonychia congenita (PC), a genodermatosis involving debilitating palmoplantar keratoderma (PPK), nail dystrophy, oral lesions and, frequently, alterations in glands and hair. C57Bl/6;Krt16-/- mice develop oral lesions early after birth and PC-like PPK lesions as young adults...
February 6, 2018: Experimental Dermatology
Laurits Frøssing, Lars Pedersen, Saher Shaker
Birt-Hogg-Dubé syndrome (BHD) is an autosomal-dominant genodermatosis manifesting as a multisystemic disorder. The most common presentation of pulmonary involvement is spontaneous pneumothorax, and it has recently been estimated, that up to 5-10% of patients with primary spontaneous pneumothorax have underlying BHD. The purpose of this case report is to stress the paramount importance of a thorough family history in patients with spontaneous pneumothorax and to recommend, that patients with a spontaneous pneumothorax and a personal or family history of pneumothorax should be screened for BHD...
January 29, 2018: Ugeskrift for Laeger
Christina Bergqvist, Bilal Abdallah, Divina-Justina Hasbani, Ossama Abbas, Abdul Ghani Kibbi, Lamiaa Hamie, Mazen Kurban, Nelly Rubeiz
Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects (CHILD syndrome) is a rare X-linked dominant genodermatosis caused by mutations in the NAD(P) dependent steroid dehydrogenase-like protein gene. Its defect leads to accumulation of toxic metabolic intermediates upstream from the pathway block and to the deficiency of bulk cholesterol, probably leading to altered keratinocyte membrane function, resulting in the phenotype seen in CHILD syndrome. Symptomatic treatment using emollients and retinoids to reduce scaling has long been used until recently, whereby new therapeutic means based on the pathogenesis-targeted therapy have been developed...
February 2, 2018: American Journal of Medical Genetics. Part A
Todd N Troxell, Meghan A Piccinin, Collin M Smith, Morgan E Parsons, G Scott Drew
No abstract text is available yet for this article.
January 29, 2018: International Journal of Dermatology
Shuai-Mei Liu, Meng-Xia Ni, Ming-Chao Zhang, Pei-Ran Zhu, Qiu-Yu Wu, Wei-Jun Jiang, Jing Zhang, Wei-Wei Li, Xin-Yi Xia
Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant pigmentary genodermatosis, which is characterized by a mixture of hyperpigmented and hypopigmented macules on the dorsal of the hands and feet, and on the face presented like freckle. Identification of RNA-specific adenosine deaminase 1 (ADAR1) gene results in DSH. This study was mainly to explore the pathogenic mutation of ADAR1 gene and provide genetics counselling and prenatal diagnostic testing for childbearing individuals.Mutational analysis of ADAR1 gene was performed by polymerase chain reaction (PCR) and electrophoretic separation of PCR products by 1...
December 2017: Journal of Genetics
Christina Bergqvist, Humam Kadara, Lamiaa Hamie, Georges Nemer, Remi Safi, Mirna Karouni, Nadine Marrouche, Ossama Abbas, Divina J Hasbani, Abdul G Kibbi, Dany Nassar, Yutaka Shimomura, Mazen Kurban
BACKGROUND: Mal de Meleda (MDM) is a rare inherited autosomal recessive genodermatosis characterized by palmoplantar keratoderma (PPK) with transgrediens and caused by mutations in the SLURP1 gene. Uncommonly, cutaneous tumors have been found at PPK sites in MDM patients. OBJECTIVE: To study a Middle Eastern family with MDM with both PPK and skin tumors. METHODS: We studied a Middle Eastern (Palestinian) family with clinical features of MDM and cutaneous tumors...
February 2018: International Journal of Dermatology
B Bhoyrul, H Lindsay, R Robinson, J Stahlschmidt, T Palmer, S Edward, S M Clark
No abstract text is available yet for this article.
December 10, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
Camilla Firing, Anette Bygum
Epidermolysis bullosa (EB) is a rare genodermatosis. A new classification system is presented, distinguishing the subtypes of EB, and this system is based on the phenotype, mode of inheritance, ultrastructure, immunofluorescence findings, and specific mutation(s) present. EB is inherited in an autosomal dominant or -recessive fashion. Clinical manifestations vary in severity and character according to subtype. The severity ranges from mild localized to life-threatening. Available treatment is mainly symptomatic with therapeutic treatment in an experimental stage...
November 20, 2017: Ugeskrift for Laeger
Giuliana Onnis, Andrea Diociaiuti, Paola Zangari, Patrizia D'Argenio, Caterina Cancrini, Lorenzo Iughetti, May El Hachem
BACKGROUND: Incontinentia pigmenti (IP) is a rare inherited genodermatosis that usually involves the skin, and also teeth, oral cavity, central nervous system, eyes, blood with eosinophilia, and rarely skeletal system, breast, heart, and lungs. Skin lesions usually appear early, at birth or within the first 2 weeks of life, with four different phases tending to follow Blaschko lines that may overlap. CASE REPORT: We report a rare case of a neonate with transient reversible pulmonary hypertension that presented at day 9 of life...
January 2018: International Journal of Dermatology
Sophie Turpin, Natalie Patey, Marianne Beaudin, Grant Mitchell, Raymond Lambert
H syndrome (OMIM 612391) is an extremely rare autosomal recessive genodermatosis, characterized by extensive skin infiltration. We report a case imaged with F-FDG PET/CT.
January 2018: Clinical Nuclear Medicine
Sarah Sanches, Priscila Regina Orso Rebellato, Andréa Buosi Fabre, Giovana Liz Marioto de Campos
Ectodermal dysplasias are conditions that present primary defects in two or more tissues of ectodermal origin and can be classified as hypohidrotic and hidrotic. Hidrotic ectodermal dysplasia or Clouston syndrome is an autosomal dominant genodermatosis and appears as a triad of clinical findings: palmoplantar keratoderma, nail dystrophy, and hypotrichosis. The hair is sparse and brittle. The nails become thickened and dystrophic, which is an essential characteristic of the syndrome. The diagnosis is made based on clinical findings...
May 2017: Anais Brasileiros de Dermatologia
Fang Xiao-Kai, He Yue-Xi, Li Yan-Jia, Chen Li-Rong, Wang He-Peng, Sun Qing
BACKGROUND: Familial progressive hyper- and hypopigmentation (FPHH) is a rare genodermatosis that is characterized by diffuse hyper- and hypopigmented spots on the skin and mucous membranes. It is caused by a pathogenic mutation of the KITLG gene. OBJECTIVES: To investigate the clinical features and mutation of the KITLG gene in a Chinese family with FPHH. METHODS: Histopathological and immunohistochemical analysis of lesions from the proband was performed...
May 2017: Anais Brasileiros de Dermatologia
Khadim Shah, Sabba Mehmood, Abid Jan, Izoduwa Abbe, Raja Hussain Ali, Anwar Khan, Muhammad S Chishti, Kwanghyuk Lee, Farooq Ahmad, Muhammad Ansar, Shaheen Shahzad, Deborah A Nickerson, Michael J Bamshad, Paul J Coucke, Regie L P Santos-Cortez, Richard A Spritz, Suzanne M Leal, Wasim Ahmad
BACKGROUND: Genodermatoses represent genetic anomalies of skin tissues including hair follicles, sebaceous glands, eccrine glands, nails, and teeth. Ten consanguineous families segregating various genodermatosis phenotypes were investigated in the present study. METHODS: Homozygosity mapping, exome, and Sanger sequencing were employed to search for the disease-causing variants in the 10 families. RESULTS: Exome sequencing identified seven homozygous sequence variants in different families, including: c...
December 2017: International Journal of Dermatology
Hemlata Panwar, Deepti Joshi, Garima Goel, Dinesh Asati, Kaushik Majumdar, Neelkamal Kapoor
Aims: Tzanck smear is an old but useful test for diagnosis of cutaneous dermatoses. The aim of this study was to highlight the potential usefulness and diagnostic pitfalls of Tzanck smear for diagnosis of cutaneous dermatoses and infections. Materials and Methods: This hospital based cross-sectional study was carried out on all Tzanck smears received for a period of twenty months (January 2014-August 2015). The smears were assessed to establish the utility of Tzanck smears in corroborating or excluding a diagnosis of immunobullous lesion or herpetic infection...
October 2017: Journal of Cytology
J F Lopes, H L de Almeida, R R da Cunha Filho, B Viganó Lattman, L A Suíta de Castro
No abstract text is available yet for this article.
October 28, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
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