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Phakomatosis Pigmentokeratotica


Presentation

  • ORPHA:2874 Synonym(s): - Prevalence: Inheritance: Unknown Age of onset: Infancy, Neonatal ICD-10: Q85.8 OMIM: - UMLS: C2931658 MeSH: C537893 GARD: 4311 MedDRA: - The documents contained in this web site are presented for information purposes only.[orpha.net]
  • This may present with differing degrees of muscle weakness on the affected side. Mental retardation, sensory abnormalities over a particular segment of the body, epilepsy, ptosis, strabismus, and hearing disability may all be present.[news-medical.net]
  • Classification of these conditions often presents many nosological challenges, since underlying etiologies and pathogenetics are often not known.[howlingpixel.com]
  • Some small, flat, angiomatous lesions were present on the right side of her body. A diffuse ichthyosislike hyperkeratosis was also present.[doi.org]
Prognathism
  • […] fingernails - Female pseudohermaphrodism / virilisation / clitoridomegaly - Hirsutism / hypertrichosis / Increased body hair - Intrauterine growth retardation - Lanugo - Macropenis / megapenis / large penis - Premature eruption of teeth / natal teeth - Prognathism[csbg.cnb.csic.es]
  • Proconvertin deficiency, congenital Procrastination Proctitis Prog Progeria short stature pigmented nevi Progeria variant syndrome Ruvalcaba type Progeria Progeroid syndrome De Barsy type Progeroid syndrome Petty type Progeroid syndrome, Penttinen type Prognathism[sosu.us]
Ptosis
  • It is often associated with neurological or skeletal anomalies such as hemiatrophy, dysaesthesia and hyperhidrosis in a segmental pattern, mild mental retardation, seizures, deafness, ptosis and strabismus.[en.wikipedia.org]
  • […] naevus syndrome . [3] It was first described by Happwe et aw . [4] It is often associated wif neurowogicaw or skewetaw anomawies such as hemiatrophy , dysaesdesia and hyperhidrosis in a segmentaw pattern, miwd mentaw retardation , seizures , deafness , ptosis[wikien4.appspot.com]
  • […] naevus syndrome . [3] It was first described by Happle et al . [4] It is often associated with neurological or skeletal anomalies such as hemiatrophy , dysaesthesia and hyperhidrosis in a segmental pattern, mild mental retardation , seizures , deafness , ptosis[popflock.com]
  • Mental retardation, sensory abnormalities over a particular segment of the body, epilepsy, ptosis, strabismus, and hearing disability may all be present.[news-medical.net]
Short Hands
  • hand / brachydactyly - Short stature / dwarfism / nanism - Thick skin / pachydermia / orange skin - Thyroid anomalies Occasional - Abnormal / polycystic ovaries - Megaureter / hydronephrosis / pyeloureteral junction syndrome Phakomatosis pigmentokeratotica[csbg.cnb.csic.es]
Eczema
  • Keeps you up-to-date with the latest hot-topic developments including new biologic agents used in the treatment of various diseases such as psoriasis, eczema and melanoma.[books.google.com]
  • In contrast, insect bites, vitiligo , dyshidrotic eczema, impetigo and tinea corporis were more common in summer. Paper-12911526 .[ihop-net.org]
Increased Body Hair
  • body hair - Intrauterine growth retardation - Lanugo - Macropenis / megapenis / large penis - Premature eruption of teeth / natal teeth - Prognathism / prognathia Frequent - Coarse / thick hair - Dry / squaly skin / exfoliation - Peripheral neuropathy[csbg.cnb.csic.es]
Lanugo
  • Autosomal dominant inheritance - Coarse face - Diabetes mellitus - Dysplastic / thick / grooved fingernails - Female pseudohermaphrodism / virilisation / clitoridomegaly - Hirsutism / hypertrichosis / Increased body hair - Intrauterine growth retardation - Lanugo[csbg.cnb.csic.es]
Hearing Impairment
  • PubMed CrossRef Google Scholar Onsun N, Inandirici A, Kural Y, Teker C, Atilganoglu U (2007) Phakomatosis pigmentovascularis type II b with bilateral hearing impairment. J Eur Acad Dermatol Venereol 21: 402.[link.springer.com]
Drop Attacks
  • attacks, floppy episodes and partial complex seizures which can occur several times daily.[ncbi.nlm.nih.gov]

Workup

  • Christian Hafner, University of Regensburg, Germany towards the diagnosis and workup of this patient. 1. Happle R. Epidermal nevus syndromes. Semin Dermatol 1995;14:111-21. 2. Vujevich JJ, Mancini AJ.[e-ijd.org]
  • Usually occurs with in 5 years of diagnosis. 59 Melanoma Workup and Treatment Establish a family history, thorough review of systems and physical exam for all patients.[powershow.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]
  • Pre-Malignant Glycogen Rich Stellate Scar which may be visible, have Ca USUHS 112 PHEOCHROMOCYTOMA AND VHL 20% of ALL Pheochromocytoma are VHL Typically in Adrenal Present YOUNGER w/VHL Multiple with VHL Mortality (5% of VHL DIE from catecholamines) Workup[slideplayer.com]
  • Workup eventually showed him to have simultaneously active lesions of a depigmenting disorder, vitiligo , and a hyperpigmenting disorder, erythema dyschromicum perstans. Paper-5922532 .[ihop-net.org]
Thrombocytosis
  • Thrombocytopathy Thrombocytopenia cerebellar hypoplasia short stature Thrombocytopenia chromosome breakage Thrombocytopenia multiple congenital anomaly Thrombocytopenia purpura Thrombocytopenia Robin sequence Thrombocytopenia Thrombocytopenic purpura, autoimmune Thrombocytosis[sosu.us]

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]
  • Stay at the forefront of your field with updated treatment methods throughout, as well as an increased focus on patients with skin of color.[books.google.ro]
  • Collins , Cutaneous skeletal hypophosphatemia syndrome: clinical spectrum, natural history, and treatment, Osteoporosis International , 2016 , 27 , 12, 3615 CrossRef 3 Sarah Asch , Jeffrey L.[onlinelibrary.wiley.com]

Prognosis

  • Prognosis - Phacomatosis pigmentokeratotica Not supplied.[checkorphan.org]
  • Prognosis depends on associated systemic disorders. Two independent cases of PPV type IIb presented with nevus flammeus, aberrant Mongolian spots, ocular and central nervous system anomalies.[casereports.bmj.com]
  • Prognosis The prognosis is very good.[patient.info]
  • In some cases of isolated PPV, the underlying cause remains unknown. [1] Treatment and long-term outlook ( prognosis ) of PPV largely depends whether there is systemic involvement and which body parts or organ systems are affected. [3] [4] Isolated PPV[rarediseases.info.nih.gov]
  • Do not need to hang a nose In most cases, phacomatoses have an unfavorable prognosis, which directly depends on the type of pathology, the age of debility of the disease and the severity of the course, and the presence of immunodeficiency, the injuries[behealthhy.com]

Etiology

  • Classification of these conditions often presents many nosological challenges, since underlying etiologies and pathogenetics are often not known.[howlingpixel.com]
  • Localized, wart-like variants, solitary or multiple • Nevus unius lateris Long, linear lesions on unilateral extremities • Ichthyosis hystrix Large, bilateral lesions on trunk Etiology/Pathogenesis • Epidermal nevus syndrome includes neurological, ocular[basicmedicalkey.com]
  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • By contrast, the group of syndromes characterized by keratinocytic nevi comprises three phenotypes with a known molecular etiology in the form of CHILD (congenital hemidysplasia with ichthyosiform nevus and limb defects) syndrome, type 2 segmental Cowden[scienceopen.com]

Epidemiology

  • […] data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: unknown Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance[csbg.cnb.csic.es]
  • : bilateral vestibular nerve schwannomas, brain meningiomas and dorsal root schwannomas Dermatological: various skin changes can be seen but are less consistently associated Other clinical features: eye lens opacities Tuberous Sclerosis Epidemiology:[pediatriceducation.org]
  • […] retardation) Ocular abnormalities (cataracts) Skeletal anomalies (kyphoscoliosis, limb hypertrophy) • Various systemic cancers at young age Other Associations • Polyostotic fibrous dysplasia • Proteus syndrome • Phakomatosis pigmentokeratotica CLINICAL ISSUES Epidemiology[basicmedicalkey.com]
  • Terminology Also known as PPK Do not confuse with Phakomatosis pigmentovascularis, combination of melanocytic nevi and nevus flammeus Schimmelpenning syndrome: epidermal nevus associated with neurologic abnormalities, may apply to some cases of PPK Epidemiology[pathologyoutlines.com]
Sex distribution
Age distribution

Pathophysiology

  • In such case, the uncertainties of current clinical diagnosis is expected to improve with subsequent development of more effective treatment strategies based on specific pathophysiology.[accjournal.org]
  • Pathophysiology Pathophysiology for most syndromes is unknown. However genetic defects for some well-recognized conditions have recently been discovered.[dermatologyadvisor.com]
  • IRCCS Ca' Granda - Ospedale Maggiore Policlinico, University of Milan, Italy Michela Brena, MD,Post-Graduate School of Dermatology and Venereology, University of Milan, Italy Carlo Gelmetti, MD,chairman of the Pediatric Dermatology Unit, Department of Pathophysiology[routledge.com]

Prevention

  • The information presented here is not intended to diagnose, treat, cure or prevent any disease. Read disclaimer.[gulfdoctor.net]
  • Prevention - Phacomatosis pigmentokeratotica Not supplied. Diagnosis - Phacomatosis pigmentokeratotica Not supplied. Prognosis - Phacomatosis pigmentokeratotica Not supplied.[checkorphan.org]
  • - 0% Emergent - ED Care Needed - Preventable/Avoidable - 0% Emergent - ED Care Needed - Not Preventable/Avoidable - 0% Primary diagnosis of injury 0% Primary diagnosis of mental health problems 0% Primary diagnosis of substance abuse 0% Primary diagnosis[medicbind.com]
  • The most common treatments are topical corticosteroids, oral antihistamines, and ketotifen. 11 Some patients require daily antihistamines to prevent frequent symptoms.[the-dermatologist.com]
  • ASLMS 2019 ePosters No No Basic Science & Translational Research Hyoung Shin Lee EFFICIENCY OF LOW-LEVEL LASER THERAPY TO PREVENT TRACHEAL STENOSIS IN AN ANIMAL MODEL Hyoung Shin Lee, Yeachan Lee, Van N Tran, Chi Woo Hwang, Hyun Wook Kang Kosin University[eposter2current.info]

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