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2.1
Cutis Verticis Gyrata-Intellectual Disability Syndrome
Cutis Verticis Gyrata - Mental Retardation

Presentation

[…] as Cutis Verticis Gyrata. ( 26955158 ) Rao A.G....Haritha M. 2016 11 Acromegaly presenting as cutis verticis gyrata. ( 26873450 ) Yerawar C....Shah N.S. 2016 12 Delayed Diagnosis of Acromegaly in an Elderly Adult that Initially Presented as Cutis Verticis [malacards.org]

A size of > 10 cms is seen in 1 out of 20,000 newborns. [6] The naevus may present as a convoluted mass over the scalp which may not be pigmented. They become larger prone f o r malignancy. [ijdvl.com]

The case we present is most consistent with the complete form of the syndrome. [omicsonline.org]

In secondary cutis verticis gyrata, skin plaques can be present at birth. The skin gradually becomes thicker, and folds and furrows are formed. [dermaamin.com]

Hypercalcemia with a serum calcium level of 12.4 mg% was present. [idoj.in]

Entire Body System

  • Lymphadenopathy

    The most severely affected child presented at age 3 years with a lymphoproliferative syndrome with lymphadenopathy and hepatosplenomegaly. [findzebra.com]

  • Anorexia

    Olanzapine-induced atypical neuroleptic malignant syndrome in an adolescent man with anorexia nervosa. Eat Weight Disord. 2016;21:309-11. [ Links ] 15. Westfall C, Mullett CJ, Nield LS. [scielo.org.co]

Jaw & Teeth

  • Microdontia

    Syndrome Chromosome 5q12 Deletion Syndrome Cutis Verticis Gyrata, Retinitis Pigmentosa, And Sensorineural Deafness Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, Andseizures Syndrome Deafness With Labyrinthine Aplasia, Microtia, And Microdontia [familydiagnosis.com]

Eyes

  • Lacrimation

    ( 20499434 ) Yoo K.H....Hong C.K. 2010 44 Ectopic lacrimal glandular tissue in a neonate with giant congenital melanocytic nevi and cutis verticis gyrata. ( 21047052 ) Raina U.K....Chaudhuri Z. 2010 45 Letter: Cerebriform intradermal nevus presenting [malacards.org]

Skin

  • Eruptions

    46 Management of primary cutis verticis gyrata with tissue expansion and hairline lowering foreheadplasty. ( 20129836 ) Mishra A....Duncan C. 2010 47 Novel FH mutation in a patient with cutaneous leiomyomatosis associated with cutis verticis gyrata, eruptive [malacards.org]

    Diagnostic criteria for scleromyxedema are as follows: [4] Generalized papular eruption and sclerodermoid features Microscopic triad of mucin deposition, fibroblast proliferation and fibrosis Monoclonal gammopathy Absence of thyroid disorder. [idoj.in]

    Arteriovenous malformation of skin Autosomal dominant epidermolysis bullosa simplex Autosomal dominant mutilating keratoderma Autosomal dominant pseudoxanthoma elasticum Autosomal recessive pseudoxanthoma elasticum Bloom syndrome Brugsch's syndrome Bullous eruption [icd9data.com]

    Novel FH mutation in a patient with cutaneous leiomyomatosis associated with cutis verticis gyrata, eruptive collagenoma and Charcot-Marie-Tooth disease. Br J Dermatol. 2010 Dec. 163(6):1337-9. [Medline]. [emedicine.medscape.com]

  • Erythema

    Erythema gyratum repens Necrolytic migratory erythema papulosquamous Acanthosis nigricans Ichthyosis acquisita Acrokeratosis paraneoplastica of Bazex Extramammary Paget's disease Florid cutaneous papillomatosis Leser-Trélat sign Pityriasis rotunda Tripe [findzebra.com]

Musculoskeletal

  • Macrocephaly

    Intellectual Disability, Autism Spectrum Disorder, and Atypical Dysmorphic Features in a Boy with Xp22.31 Duplication Articolo in rivista Go to 2019 The impact of genetic diseases on neonatal and pediatric care Articolo in rivista Go to 2019 Microcephaly and macrocephaly [unipa.it]

Neurologic

  • Headache

    Rama Walia, Anil Bhansali Department of Endocrinology, PGIMER, Chandigarh, India Correspondence to Professor Anil Bhansali, anilbhansali_endocrine{at}rediffmail.com Statistics from Altmetric.com Description A 30-year-old male presented with headache and [casereports.bmj.com]

    The patient did not report headache, vision loss, or enlargement of his facial features such as the nose, jaw or forehead. The patient’s past medical history was significant for mental retardation and bilateral hearing loss since childhood. [omicsonline.org]

    Alopecia and cutis verticis gyrata due to traction presenting as headache. Int J Dermatol. 1992 Sep. 31(9):671-2. [Medline]. Nguyen KH, Marks JG Jr. Pseudoacromegaly induced by the long-term use of minoxidil. [emedicine.medscape.com]

    […] stati di ipovitaminosiD Proceedings (TIPOLOGIA NON ATTIVA) Go to 2013 Il “late preterm”: un neonato pretermine attempato Articolo in rivista Go to 2013 Third-hand smoke exposure and health hazards in children Articolo in rivista Go to 2013 An acute headache [unipa.it]

Urogenital

  • Renal Insufficiency

    renal insufficiency: relationships with clinical, auxological and endocrine profiles Abstract in rivista Go to 2009 Rabdomiolisi in corso di infezione da virus parainfluenzale: descrizione di un caso in età pediatrica. [unipa.it]

Workup

Subsequent workup was consistent with a diagnosis of the complete form of primary hypertrophic osteoarthropathy also known as pachydermoperiostosis. [omicsonline.org]

Treatment

Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.org]

Treatment is surgical, involving the excision of the most densely folded areas of skin and the tightening of the scalp in longitudinal and transverse directions. Surgical treatment is indicated when the patient requests it. [docteurmedarddechardon.co.uk]

FDA cleared adalimumab for the treatment for hidradenitis suppurativa. [36] Humira ( adalimumab ) [37] is the first FDA approved drug for the treatment of HS. [checkrare.com]

Treatment Before any form of treatment may be administered, a definitive diagnosis should be properly established. [medigest.uk]

Some authors propose a combination of medical treatment with surgery, while others prefer wait and see attitude, especially for mild or moderate lesions. For secondary forms, the ideal treatment should be elimination of the causative disease. [em-consulte.com]

Prognosis

Prognosis - Cutis verticis gyrata Not supplied. Treatment - Cutis verticis gyrata Properly establishing the diagnosis is very important. Separately exclude or treat any underlying process (see Background). [checkorphan.org]

Congenital cases of primary cutis verticis gyrata have been rarely reported. [53] Some secondary forms, like cerebriform intradermal nevus, may be present at birth. [3] Prognosis The prognosis of primary cutis verticis gyrata is good, although the condition [emedicine.medscape.com]

Concerning prognosis, CVG is a benign condition, except in rapid evolving lesions or when there are nevi inside the grooves. Because, some nevi may become malignant. For this, a long-term follow-up is mandatory [ 15 ]. [em-consulte.com]

[…] split-thickness skin graft is more appropriate. [8] Laser hair removal The 1064 nanometer wavelength laser for hair removal aids in the treatment of HS. [39] A randomized control study has shown improvement in HS lesions with the use of an Nd:YAG laser. [40] Prognosis [checkrare.com]

Case report and literature review Articolo in rivista Go to 2019 DELEZIONE CROMOSOMICA CRIPTICA 1p31.1: EFFICACIA DELLA TERAPIA COMBINATA CON L-TIROXINA, GH ED LHRHa PER MIGLIORARE LA PROGNOSI STATURALE Abstract in atti di convegno pubblicato in volume [unipa.it]

Etiology

Causes The cause is unknown in primary cases, although genetic and endocrinologic factors are suspected to participate in the etiology. [dermaamin.com]

Causes - Cutis verticis gyrata * The cause is unknown in primary cases, although genetic and endocrinologic factors are suspected to participate in the etiology. * Systemic diseases, inflammatory dermatoses, underlying nevoid abnormalities, and trauma [checkorphan.org]

In our patient, the concomitant appearance of acromegaly and CVG pleads for GH excess etiology. [em-consulte.com]

[…] primary cases, although genetic and endocrinologic factors are suspected to participate in the etiology. [emedicine.medscape.com]

Michaud, Myriam Srour Tags: CLINICAL REPORT Source Type: research Non ‐syndromic bilateral ulnar aplasia with humero‐radial synostosis and oligo‐ectro‐dactyly Congenital anomalies of the upper limbs are rare and etiologically heterogeneous. [medworm.com]

Epidemiology

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.com]

Despite the small number of patients, our epidemiologic data are in agreement with the literature. [thieme-connect.com]

Articolo in rivista Go to 2017 Epidemiology and diagnostic and therapeutic management of febrile seizures in the Italian pediatric emergency departments: A prospective observational study. [unipa.it]

A review of the epidemiology and classification of lymphedema on the backdrop of its clinical presentation reveals weaknesses of the present classification system, which, however, is the basis for the choice of optimal patient care. [link.springer.com]

Epidemiologic and clinical aspects. Acta Med Scand. 1964 Jan. 175:115-27. [Medline]. Akesson Ho. Cutis verticis gyrata and mental deficiency in Sweden. II. Genetic aspects. Acta Med Scand. 1965 Apr. 177:459-64. [Medline]. MacGillivray RC. [emedicine.medscape.com]

Pathophysiology

Author information 1 Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy. 2 Division of Neuroradiology, Fondazione [ncbi.nlm.nih.gov]

Ehlers-Danlos syndrome Noonan syndrome 24,21 Turner syndrome Supernumerary X chromosome syndromes (including Klinefelter syndrome) 25 Hereditary neuralgic amyotrophy 26 Intracranial aneurysm 27 Intraventricular ependymoma 27 Hyperimmunoglobulin E syndrome 28 Pathophysiology [dermaamin.com]

[…] without monoclonal gammopathy [34] Supernumerary X chromosome syndromes (including Klinefelter syndrome) [35] Systemic T-cell lymphoma [36] Turner syndrome Vemurafenib and whole-brain radiotherapy combination treatment in melanoma patients [37, 38] Pathophysiology [emedicine.medscape.com]

Prevention

Prevention - Cutis verticis gyrata Not supplied. Diagnosis - Cutis verticis gyrata Not supplied. Prognosis - Cutis verticis gyrata Not supplied. Treatment - Cutis verticis gyrata Properly establishing the diagnosis is very important. [checkorphan.org]

A good and regular hygiene of the skin folds and depressions seems more fundamental for the prevention of microbial and fungal infections. Some medical shampoos can be very useful especially for the scalp. [em-consulte.com]

Surgery is the morphological treatment of choice for cutis verticis gyrata, but does not prevent the continued progression of the disease. [docteurmedarddechardon.co.uk]

Italian Society of Hygiene, Preventive Medicine, and Public Health. Italian Society of Pediatrics. Italian Federation of Pediatric Physicians. Italian Federation of General Medical Physicians. [unipa.it]

We utilized National Birth Defects Prevention Study data to conduct a family‐based case only study using 616 live‐born infants with CTHDs, born October 1997—August 2008. [medworm.com]

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