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cutis verticis gyrata

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https://www.readbyqxmd.com/read/29681086/a-novel-homozygous-mutation-in-the-slco2a1-gene-causing-pachydermoperiostosis-efficacy-of-hydroxychloroquine-treatment
#1
Annalisa Alessandrella, Roberto Della Casa, Maria Alessio, Jorge Puente Prieto, Pietro Strisciuglio, Daniela Melis
Pachydermoperiostosis (PDP), otherwise known as primary hypertrophic osteoarthropathy, is characterized by digital clubbing, pachydermia and subperiosteal new bone formation. Joint pain, polyarthritis, cutis verticis gyrata, seborrhea, and hyperhidrosis are frequently associated to this condition. We report a 17-year-old boy presented with pain and swelling of knees and ankles, and progressive thickening of skin face with seborrhea from about 4 years. At the admission he also showed digital clubbing of both hands and feet and palmoplantar hyperhidrosis...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29581917/idiopathic-cutis-verticis-gyrata-in-a-female
#2
Mohamed Amine Ennouhi, Alae Guerrouani, Abdennacer Moussaoui
Cutis verticis gyrata (CVG) is a benign proliferation and hypertrophy involving the scalp which exhibits furrows resembling the cerebral cortex convolutions. The diagnosis of CVG is based on clinical findings. Complementary investigations are recommended to rule out local or systemic underlying disorders. Idiopathic or essential primary CVG refers to cases without obvious origin and with no other associated abnormalities. These forms affect mainly men. Herein, the authors present a new observation of an idiopathic CVG in a female, which seems to be extremely rare...
January 23, 2018: Curēus
https://www.readbyqxmd.com/read/29398756/pachydermoperiostosis-in-a-patient-with-crohn-s-disease-treatment-and-literature-review
#3
Maryam Mobini, Ozra Akha, Hafez Fakheri, Hadi Majidi, Sanam Fattahi
Pachydermoperiostosis (PDP) is a rare disorder characterized by pachydermia, digital clubbing, periostitis, and an excess of affected males. It is the primary form of hypertrophic osteoarthropathy (HOA) and there are some rare associations of PDP with other disorders. Here we describe a patient with Crohn's disease associated with PDP. A 26-year-old man, who was a known case of Crohn's disease, referred with diffuse swelling in the upper and lower limbs and cutis verticis gyrata since 7 years ago. PDP was suspected and endocrinological and radiological studies were conducted for the evaluation of underlying disease...
January 2018: Iranian Journal of Medical Sciences
https://www.readbyqxmd.com/read/28942405/congenital-melanocytic-nevus-mimicking-a-turban-tumour-in-an-18-year-old-filipino-male
#4
Maria Elinor Grace Sison, Eileen Cubillan, Bernard U Tansipek
Congenital melanocytic nevi (CMN) are nevi that are present at birth or arise within the first few weeks of life. They are often found on the trunk, head and neck and extremities. We report herein an unusual presentation of a CMN as a cerebriform tumour presenting as secondary cutis verticis gyrata on the scalp of an 18-year-old Filipino male.
September 23, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28916395/pachydermoperiostosis-the-value-of-molecular-diagnosis
#5
V Seta, Y Capri, M Battistella, M Bagot, E Bourrat
BACKGROUND: Pachydermoperiostosis is a rare autosomal recessive genetic disorder characterized by the association of periostosis and pachydermia. To date, two genes involved in prostaglandin metabolism, HPGD and SLCO2A1, have been identified. PATIENTS AND METHODS: A 7-year-old girl presented digital clubbing of the hands and feet, curved nails, hyperhidrosis, and pachydermia, as well as eczema of the trunk and limbs. The diagnosis of pachydermoperiostosis was confirmed by the detection of a homozygous mutation in the HPGD gene...
September 12, 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/28681061/cutis-verticis-gyrata-fluctuation-with-atopic-dermatitis-disease-activity
#6
Hideyuki Kosumi, Kentaro Izumi, Ken Natsuga, Yasuyuki Yamaguchi, Akira Itami, Hiroshi Shimizu
No abstract text is available yet for this article.
November 15, 2017: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/28602931/pachydermoperiostosis-of-the-complete-type-a-novel-missense-mutation-c-101t%C3%A2-%C3%A2-c-in-the-slco2a1-gene
#7
Wenbin Ma, Shuqin Guo, Yan Li, Zhihong Li
We report on a rare case of pachydermoperiostosis (PDP) in a 25-year-old male who was admitted to our hospital because of enlargement of fingers and toes. Through examination, we found some typical features on the patient including finger clubbing, periostosis, pachydermia, and cutis verticis gyrata (CVG). But laboratory tests were almost within normal ranges, which ruled out rheumatic arthritis, osteopulmonary arthropathy, thyroid acropathy, and acromegaly. Then, we diagnosed this case as PDP, which was confirmed by gene sequencing...
August 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28329551/cutis-verticis-gyrata
#8
Sarah Yagerman, Shields Callahan, Vitaly Terushkin, Shane A Meehan, Miriam Keltz Pomeranz, Alvin Friedman-Kien
Cutis verticis gyrata that involves only the face isa rare presentation of this even rarer cutaneousanomaly. We present a 61-year-old man, whodeveloped primary essential progressive cutis verticisgyrata of the face.
December 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28019079/is-cutis-verticis-gyrata-intellectual-disability-syndrome-an-underdiagnosed-condition-a-case-report-and-review-of-62-cases
#9
REVIEW
Arianna Tucci, Lidia Pezzani, Giulietta Scuvera, Luisa Ronzoni, Elisa Scola, Susanna Esposito, Donatella Milani
Cutis Verticis Gyrata-Intellectual Disability (CVG-ID) syndrome is a rare neurocutaneous syndrome characterized by intellectual disability and scalp folds and furrows that are typically absent at birth and are first noticed after puberty. First reported in 1893, the syndrome was mainly identified in subjects living in psychiatric institutions, where it was found to have a prevalence of up to 11.4%. Most patients were reported in the literature during the first half of the 20th century. CVG-ID is now a less reported and possibly under-recognized syndrome...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27536914/scalp-reconstruction-with-free-latissimus-dorsi-flap-in-a-patient-with-giant-cutis-verticis-gyrata
#10
Ozay Ozkaya Mutlu, Ozlem Colak, Mert Canli, Ayberk Akcay
INTRODUCTION: Cutis verticis gyrata is a rare skin disorder characterized by formation of thick skin folds and grooves. Because of the risk of malignant transformation, these lesions must be surgically excised. In this study, the authors aimed to present a successful reconstruction of scalp with free latissimus dorsi musculocutaneous flap after total excision of giant cerebriform intradermal nevus that causes cutis verticis gyrata. PATIENT REPORT: An 18-year-old male patient attended to our clinic with a large tumor that covers almost 80% of his scalp...
September 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27488099/is-igf-1-a-key-player-in-the-pathogenesis-of-acromegaly-associated-cutis-verticis-gyrata
#11
LETTER
Jo Ana Schunter, Dieter Metze, Markus Böhm
No abstract text is available yet for this article.
January 2017: Experimental Dermatology
https://www.readbyqxmd.com/read/27477175/cutis-verticis-gyrata-a-case-report
#12
Jasna Zeljko-Penavić, Dubravka Šimić, Kristina Jurišić, Anita Gunarić
Cutis verticis gyrata (CVG) is a skin condition characterized by excessive growth of the skin of the scalp, resulting in furrows and folds which are similar to the gyri of the brain cortex. CVG can be classified into two forms: primary (essential and non-essential) and secondary. We report the case of a 53-year-old male patient with the primary type of CVG. The patient did not present with any cutaneous complication. His main complaint was the unaesthetic aspect of his scalp related to a psychological inferiority complex...
June 2016: Acta Dermatovenerologica Croatica: ADC
https://www.readbyqxmd.com/read/27294055/a-rare-association-of-scleromyxedema-with-cutis-verticis-gyrata
#13
Savita Koregol, Ramesh V Yatagiri, Sidramappa R Warad, Nasiruddin R Itagi
Cutis verticis gyrata (CVG) is characterized by redundant skin on the scalp that exhibits deep furrows and convolutions. We report a 58-year-old male who presented with multiple raised asymptomatic skin-colored lesions over the chest and abdomen and features of CVG. Biopsy from the lesion confirmed the diagnosis of scleromyxedema. Scleromyxedema presents as diffuse thickening of the skin which underlies the papules. The hypertrophy and folding of the skin produces a gyrate appearance.
May 2016: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/27141249/congenital-primary-essential-cutis-verticis-gyrata
#14
Andreas M Lamelas, Peter J Taub, Lester Silver, Aron Kressel
No abstract text is available yet for this article.
2016: Eplasty
https://www.readbyqxmd.com/read/26955158/giant-cerebriform-congenital-cellular-blue-nevus-presenting-as-cutis-verticis-gyrata
#15
Angoori Gnaneshwar Rao, Divya Koppada, M Haritha
No abstract text is available yet for this article.
January 2016: Indian Journal of Dermatology
https://www.readbyqxmd.com/read/26873450/acromegaly-presenting-as-cutis-verticis-gyrata
#16
C Yerawar, T Bandgar, A Lila, N S Shah
No abstract text is available yet for this article.
June 2016: QJM: Monthly Journal of the Association of Physicians
https://www.readbyqxmd.com/read/26829994/a-familial-form-of-primary-essential-cutis-verticis-gyrata
#17
LETTER
H Suh, Á Flórez-Menéndez, C de La Torre-Fraga
No abstract text is available yet for this article.
June 2016: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/26829746/-progress-in-genetic-research-on-pachydermoperiostosis
#18
REVIEW
Ran Du, Liangliang Fan, Hao Huang, Rong Xiang
Pachydermoperiostosis is a rare genetic disease characterized by finger clubbing, periostosis, cutis verticis gyrata and pachydermia accompanied by acroosteolysis and hyperhidrosis. Recently, two susceptibility genes, HPGD and SLCO2A1, have been identified, whose protein products are involved in the transportation of prostaglandin and metabolism underlying pachydermoperiostosis. Here the genetic basis of pachydermoperiostosis and its correlation with its clinical phenotype are reviewed, which may provide a reference for basic research and clinic diagnosis for the disease...
February 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/25964088/pathological-characterization-of-pachydermia-in-pachydermoperiostosis
#19
Keiji Tanese, Hironori Niizeki, Atsuhito Seki, Atsushi Otsuka, Kenji Kabashima, Keisuke Kosaki, Masamitsu Kuwahara, Shun-Ichi Miyakawa, Mikiko Miyasaka, Kentaro Matsuoka, Torayuki Okuyama, Aiko Shiohama, Takashi Sasaki, Jun Kudoh, Masayuki Amagai, Akira Ishiko
Pachydermoperiostosis is a rare hereditary disease, which presents with the cutaneous manifestations of pachydermia and cutis verticis gyrata. Histological findings in pachydermia frequently include dermal edema, mucin deposition, elastic fiber degeneration, dermal fibrosis and adnexal hyperplasia. However, the severity of these findings varies between clinical reports, and a systematic multiple-case clinicopathological correlative analysis has not been performed to date. In the present study, we reviewed the skin biopsy specimens obtained from the pachydermia of six pachydermoperiostosis patients...
July 2015: Journal of Dermatology
https://www.readbyqxmd.com/read/25922634/-primitive-essential-cutis-verticis-gyrata-a-rare-skin-disease-case-report-and-review-of-literature
#20
REVIEW
Boukind Samira, Dlimi Meriem, Elatiqi Oumkeltoum, Elamrani Driss, Benchamkha Yassine, Ettalbi Saloua
No abstract text is available yet for this article.
2014: Pan African Medical Journal
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