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Tricho-Oculo-Dermo-Vertebral Syndrome

Stoll-Alembik-Finck Syndrome


Presentation

  • In 53 conditions cause is unknown; 35 of them present some causal (genetic) suggestion.[researchgate.net]
  • The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Onychodysplasia and hyperpigmented areas on the limbs may be present. Eyebrows are absent, palpebral fissures are narrow, and bilateral cataracts may occur.[accessanesthesiology.mhmedical.com]
  • The first subsection presents diagnostic algorithms. The subsequent subsection presents more detailed information about specific disorders.[neupsykey.com]
  • At initial presentation, the lentigines are deeply pigmented but have a tendency to fade over time .[pocketdentistry.com]
Nail Abnormality
  • It is more common in males. 1318 Other clinical features include punctate hyperkeratoses of the palms, and nail abnormalities. 1320 Lesions identical to those of acrokeratosis verruciformis develop in a significant number of patients with Darier’s disease[plasticsurgerykey.com]
Miosis
  • الصفحة 358 - Ocular signs of cerebral involvement include the following: nystagmus, unilateral mydriasis, bilateral miosis with slow response to light, paralysis of accommodation, convergence, and 3rd, 4th, and 6th cranial nerve involvement. ‏[books.google.com]
  • Seite 358 - Ocular signs of cerebral involvement include the following: nystagmus, unilateral mydriasis, bilateral miosis with slow response to light, paralysis of accommodation, convergence, and 3rd, 4th, and 6th cranial nerve involvement. ‎[books.google.de]
  • Página 358 - Ocular signs of cerebral involvement include the following: nystagmus, unilateral mydriasis, bilateral miosis with slow response to light, paralysis of accommodation, convergence, and 3rd, 4th, and 6th cranial nerve involvement. ‎[books.google.es]
  • […] microsporidiosis, microstomia, microtia, midas, middle, midface, midfacial, midline, mietens, mievis, migraine, migrant, migration, migrational, migrognathia, milad, mild, miles-carpenter, mimouni, mineralocorticoid, minkowski-chauffard, minoxidil, miosis[rapsodyonline.eurordis.org]
  • Hypoplastic iris or hypoplastic ciliary muscle causing decreased miosis For the pulmonary system to be involved, I of the minor criteria must be present. 1. Spontaneous pneumothorax or 2.[cram.com]
Photophobia
  • 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.[researchgate.net]
  • Elevated serum creatine phosphokinase Arterial rupture Aortic rupture Cardiomyopathy Retinopathy Posterior embryotoxon Short middle phalanx of finger Anophthalmia Optic nerve hypoplasia Pigmentary retinopathy Retinal dystrophy Astigmatism Coloboma Seizures Photophobia[mendelian.co]
  • […] phenomenon, phenotype, phenotypic, phenylketonuria, philadelphia, phocomelia, phocomelic, phosphatase, phosphate-isomerase, phosphate-responsive, phosphoglucomutase, phosphoglycerate, phosphoribosylpyrophosphate, phosphoribosyltransferase, phosphorylase, photophobia[rapsodyonline.eurordis.org]
  • Photophobia and alopecia are often present, 291 leading to the eponym IFAP ( i chthyosis f ollicularis, a lopecia, a trichia, p hotophobia). 289 Three of the patients reported have also had acanthosis nigricans-like lesions. 287 The case reported as ‘[plasticsurgerykey.com]
Alopecia
  • Palmoplantar keratoderma (PPK) may concur with congenital alopecia (CA) in various genodermatoses.[researchgate.net]
  • Assigned diseases: Back to detailed view In the following you will find the diseases that this support group organisation focuses on: ADULT syndrome AREDYLD syndrome Acrofacial dysostosis, Weyers type Alopecia-contractures-dwarfism-intellectual disability[se-atlas.de]
  • Part A 2010 DOI: 10.1002/ajmg.a.33490 Palmoplantar keratoderma (PPK) may concur with congenital alopecia (CA) in various genodermatoses.[semanticscholar.org]
  • […] embolism 旋毛蟲栓塞 tricho-dento-osseous(TDO) syndrome 毛髮 齒 骨症候群 tricho-oculo-dermo-vertebral syndrome 毛髮 眼 皮 脊椎骨症候群 tricho-rhino-phalangeal syndrome 毛髮 鼻 指(趾)骨症候群 trichoadenoma 毛腺瘤 trichoblastoma 毛囊母細胞瘤 trichoclasia 脆髮症 trichoclasomanic or trichkrytomic alopecia[sheethub.com]
  • *Cross-sectional trichometry[49] - It is a useful tool to clinically assess changes in hair mass caused by thinning, shedding, breakage or growth in males and females with progressive alopecia or those receiving treatment for alopecia.[go.galegroup.com]
Pachyonychia
  • Proliferation of the nail bed will produce a thickened nail which, as in pachyonychia congenita, is not evident until early childhood. Mosaic disorders can most easily be studied in the skin and therefore may involve the nail apparatus.[researchgate.net]
  • Ectodermal Dysplasias Hypohidrotic Ectodermal Dysplasia Syndrome Rapp-Hodgkin Ectodermal Dysplasia Syndrome Tricho-Dento-Osseous Syndrome Clouston Syndrome GAPO Syndrome Pachyonychia Congenita Syndrome Xeroderma Pigmentosa Syndrome Senter-Kid Syndrome[callisto.ro]
  • Nail dystrophy of late onset (pachyonychia congenita tarda) has been reported. 706. 707. 708. and 709.[plasticsurgerykey.com]
  • […] otoonychoperoneal, otopalatodigital, otosclerosis, outlet, outstanding, ouvrier, ovarian, overgrowth, overgrowth-craniosynostosis-arthrogryposis, overhydrated, overlapping, overload, overriding, oxidase, oxycephaly, oxydase, oxydoreductase, P p2y12, pachygyria, pachyonychia[rapsodyonline.eurordis.org]
Leukonychia
  • ., 1993] , and keratoderma– hypotrichosis–leukonychia totalis [Bas aranBas aran et al., 1995] .[researchgate.net]
  • Immunodeficiency associated with multiple organ system abnormalities Isologous chimera Johanson-Blizzard syndrome Kabuki make-up syndrome Kabuki syndrome Kenny syndrome Klippel Trenaunay Weber syndrome Klippel-Trenaunay-Weber syndrome Knuckle pads, deafness AND leukonychia[icd9data.com]
  • […] lenz, lenz-majewski, leod, leprosy, leptin, leptospirosis, leri, lesch-nyhan, lesions, letal, lethal, lethargica, leucocytoclasic, leuconychia, leukaemia, leukemia, leukemic, leukocyte, leukodystrophy, leukoencephalitis, leukoencephalopathy, leukoma, leukonychia[rapsodyonline.eurordis.org]
  • […] organomegaly, endocrinopathy, M protein, skin changes) syndrome: Criteria for diagnosis Cutaneous manifestations: including hyperpigmentation, hypertrichosis, hemangiomas (cherry hemangiomas and the characteristic glomeruloid), acrocyanosis, flushing, and leukonychia[cram.com]
Bulbous Nose
  • With time, this finding appears to become less noticeable, and the face develops a triangular shape, accentuated by a broad and bulbous nose. Am. J. Med. Genet. 76:58–61, 1998. 1998 Wiley-Liss, Inc.[researchgate.net]
  • Abnormalities that are usually present at birth include unusual facial features including a large, rounded (bulbous) nose, thin, sparse hair and/or excess skin.[rarediseases.org]
  • February 11, 1997: American Journal of Medical Genetics # 212 Y Eroğlu, D Erçal Tricho-rhino-phalangeal syndrome type I (TRPS I) is characterized by a bulbous nose, sparse hair and epiphyseal coning.[read.qxmd.com]
Nystagmus
  • الصفحة 358 - Ocular signs of cerebral involvement include the following: nystagmus, unilateral mydriasis, bilateral miosis with slow response to light, paralysis of accommodation, convergence, and 3rd, 4th, and 6th cranial nerve involvement. ‏[books.google.com]
  • Seite 358 - Ocular signs of cerebral involvement include the following: nystagmus, unilateral mydriasis, bilateral miosis with slow response to light, paralysis of accommodation, convergence, and 3rd, 4th, and 6th cranial nerve involvement. ‎[books.google.de]
  • Página 358 - Ocular signs of cerebral involvement include the following: nystagmus, unilateral mydriasis, bilateral miosis with slow response to light, paralysis of accommodation, convergence, and 3rd, 4th, and 6th cranial nerve involvement. ‎[books.google.es]
  • Anophthalmia Optic nerve hypoplasia Pigmentary retinopathy Retinal dystrophy Astigmatism Coloboma Seizures Photophobia Hypothyroidism Agenesis of corpus callosum Microphthalmia Intellectual disability, severe Respiratory distress Respiratory insufficiency Nystagmus[mendelian.co]
  • Other ocular findings include megalocornea, nystagmus, keratoconus, ectopia lentis, or colobomas of the iris. Frequent headaches, seizures, and mental deficiency may also occur.[entokey.com]
Cranial Nerve Involvement
  • الصفحة 358 - Ocular signs of cerebral involvement include the following: nystagmus, unilateral mydriasis, bilateral miosis with slow response to light, paralysis of accommodation, convergence, and 3rd, 4th, and 6th cranial nerve involvement. ‏[books.google.com]
  • Seite 358 - Ocular signs of cerebral involvement include the following: nystagmus, unilateral mydriasis, bilateral miosis with slow response to light, paralysis of accommodation, convergence, and 3rd, 4th, and 6th cranial nerve involvement. ‎[books.google.de]
  • Página 358 - Ocular signs of cerebral involvement include the following: nystagmus, unilateral mydriasis, bilateral miosis with slow response to light, paralysis of accommodation, convergence, and 3rd, 4th, and 6th cranial nerve involvement. ‎[books.google.es]
Mydriasis
  • الصفحة 358 - Ocular signs of cerebral involvement include the following: nystagmus, unilateral mydriasis, bilateral miosis with slow response to light, paralysis of accommodation, convergence, and 3rd, 4th, and 6th cranial nerve involvement. ‏[books.google.com]
  • Seite 358 - Ocular signs of cerebral involvement include the following: nystagmus, unilateral mydriasis, bilateral miosis with slow response to light, paralysis of accommodation, convergence, and 3rd, 4th, and 6th cranial nerve involvement. ‎[books.google.de]
  • Página 358 - Ocular signs of cerebral involvement include the following: nystagmus, unilateral mydriasis, bilateral miosis with slow response to light, paralysis of accommodation, convergence, and 3rd, 4th, and 6th cranial nerve involvement. ‎[books.google.es]

Workup

  • Patients should be referred for appropriate workup, including genetic analysis for FAP mutations.[pocketdentistry.com]
  • TABLE 7.2 Basic Initial Workup for Suspected Metabolic Disorder Test/Study Abnormalities of Interest Urine: collect each fresh sample separately in clean container and stored at 4 C (short term). Freeze at-20 C.[neupsykey.com]
  • Workup Imaging Studies MRIs can be used to evaluate intracranial involvement. MRIs may show cerebral atrophy, dilated ventricles, hemimegalencephaly, pachygyria, or enlarged white matter.[dermaamin.com]

Treatment

  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Intermittent treatment (pulses) with itraconazole (p.61-4) Alexandro Bonifaz , Leonel Fierro , Amado Saúl , Rosa María Ponce A 4-month, open-label study evaluating the efficacy of eflornithine 11.5% cream in the treatment of unwanted facial hair in women[jle.com]
  • A limited number of treatment options exist, including regular application of Capsaicin cream and prolonged relief may be provided by botulinum toxin treatment.[ipfs.io]
  • BOTOX: "Botulinum toxin is a licensed and FDA approved treatment for chronic migraines," said Dr Maryam Zamani, Consultant Oculoplastic Surgeon and Aesthetic Doctor at the Cadogan Clinic.[medical-dictionary.thefreedictionary.com]
  • Standard Therapies Treatment The treatment of TRPS2 is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists.[rarediseases.org]

Prognosis

  • MTC is associated with a universally poor prognosis because of a marked propensity for metastasis and recurrence .[pocketdentistry.com]
  • Prognosis - Oculo tricho dysplasia Not supplied. Treatment - Oculo tricho dysplasia Not supplied. Resources - Oculo tricho dysplasia Not supplied.[checkorphan.org]
  • Diagnosis - Oculo tricho anal syndrome Home medical testing related to Oculo tricho anal syndrome: * Colon & Rectal Cancer: Home Testing o Home Colorectal Cancer Tests o Home Fecal Occult Bleeding Tests Prognosis - Oculo tricho anal syndrome Not supplied[checkorphan.org]
  • Prognosis: Variable, progressive w/ periods of stability & exacerbations. Death may occur from sudden cardiac event.[neupsykey.com]
  • Affected patients are at slight increased risk for hearing impairment, renal anomalies, and cardiac anomalies. 1,3 Prognosis. The lesion is benign, and the prognosis is excellent. Management.[consultant360.com]

Etiology

  • The etiology of craniofacial clefting is believed to be multifactorial.[synapse.koreamed.org]
  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • We present two classifications: one based on system involvement and the other based on etiology. A few examples are included under the different headings. I.[entokey.com]
  • Smith's Recognizable Patterns of Human Malformation has long been known as the source to consult on multiple malformation syndromes of environmental and genetic etiology as well as recognizable disorders of unknown cause.[callisto.ro]
  • […] distilled water dx - diagnosis ea - each EEG - electroencephalogram EENT - eye, ear, nose, throat ECG/EKG - electrocardiogram EMS - emergency medical service ENT - ear, nose, and throat ER - emergency room ESR - erythrocyte sedimentation rate etiol - etiology[hopperinstitute.com]

Epidemiology

  • SCC is predominant in the Indian population rather than the BCC; this is an epidemiological characteristic that sets us apart from the global trend.[e-ijd.org]
  • […] supernumerary tragus . 3,4 The terms preauricular skin tag , accessory auricle , rudimentary auricle , polyotia , and supernumerary pinna are misnomers, since accessory tragus derives solely from the first hillock of His, and these terms suggest otherwise. 3,5 Epidemiology[consultant360.com]
  • Although several studies (as well as common “wisdom”) suggest that people who quit smoking will gain weight, 2 epidemiologic data from the US National Health and Nutrition Examination Survey (NHANES II) suggest that this gain may not be excessive. 3 Ex-smokers[consultant360.com]
  • Vitiligo: Compendium of clinico-epidemiological features. Indian J Dermatol Venereol Leprol 2007;73:149-56. 66. Margolis DJ, Weinberg JM, Tangoren IA, Cheney RT, Johnson BL Jr. Trichophytic granuloma of the vulva. Dermatology 1998;197:69-70. 67.[go.galegroup.com]
  • An epidemiologic study. Angle Orthod. 1985; 55(2):167-176. 23. Boushell LW. Diastema. J Esthet Restor Dent. 2009; 21(3): 209–210; doi: 10.1111/j.1708-8240.2009.00261.x. 24. Gallup AC, Hack GD.[zdoc.site]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology Epidermal nevi arise from pluripotential germinative cells of the basal layer of the embryonic epidermis.[dermaamin.com]
  • Pons-Guiraud, A, Dry skin in dermatology: a complex pathophysiology, J Eur Acad Dermatol Venereol 21 ( Suppl 2 ) ( 2007 ) 1 – 4. 42.[plasticsurgerykey.com]

Prevention

  • MAINTENANCE AND RELAPSE PREVENTION Although the cessation attempt is relatively straightforward when patients are motivated to quit, data suggest that maintenance strategies and relapse prevention techniques must be considered from the start.[consultant360.com]
  • Causes - Oculo tricho dysplasia * Abetalipoproteinaemia * Abetalipoproteinemia * Alström syndrome * Armendares syndrome * Bardet-Biedl syndrome * Baldness * Male pattern baldness * Female pattern baldness * Hereditary baldness * Normal aging * Menopause Prevention[checkorphan.org]
  • Prevention - Oculo tricho anal syndrome Not supplied.[checkorphan.org]
  • Your skin Holds body fluids in, preventing dehydration Keeps harmful microbes out, preventing infections Helps you feel things like heat, cold, and pain Keeps your body temperature even Makes vitamin D when the sun shines on it Anything that irritates[icdlist.com]
  • When small pieces of the retina become detached from the underlying layers, the result is a retinal detachment ; surgery may be necessary to prevent blindness. presbyopia (usually taking the form of hyperopia) occurs in older persons and develops as the[medical-dictionary.thefreedictionary.com]

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