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]

• Falling

  This neurocutaneous disorder is characterized by a craniofacial nevus sebaceus that falls along embryonic cutaneous lines and tends to be associated with neurological, ocular, skeletal, and vascular abnormalities. [3] This rare disorder represents a mosaic [emedicine.medscape.com]

• 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]

• 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]

• 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]

• 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]

• Dysesthesia

  Clinical Features It is characterized by the presence of: A sebaceous nevus in a linear pattern A speckled lentiginous nevus in a checkerboard pattern Other systemic anomalies, most commonly hemiatrophy, dysesthesia, and hyperhidrosis affecting a segment [news-medical.net]

  We emphasize that in our patients, the onset of hemiatrophy and hyperhidrosis with dysesthesia was slow and was overlooked during the initial examination. [doi.org]

  Hemiatrophy seems to be a common finding in all cases; hyperpathia; dysesthesia, and hyperhidrosis, as well as other neurologic defects, may be present. Conclusions: The findings in these patients allowed us to better delineate this syndrome. [moh-it.pure.elsevier.com]

  Symptoms - Phacomatosis pigmentokeratotica The list of signs and symptoms mentioned in various sources for Phacomatosis pigmentokeratotica includes the 13 symptoms listed below: * Hemiatrophy * Hyperpathia * Dysesthesia * Increased sweating * Neurological [checkorphan.org]

• Drop Attacks

  attacks, floppy episodes and partial complex seizures which can occur several times daily. [ncbi.nlm.nih.gov]

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]

• Right Bundle Branch Block

  Keywords Spinal Muscular Atrophy Neurological Abnormality Right Bundle Branch Block Melanocytic Nevus Leopard Syndrome These keywords were added by machine and not by the authors. [link.springer.com]

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]

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]

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.ro]

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]

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]

Didymosis, a phenomenon known as “twin spot” is an accepted etiology of PPV3,5. Our patient presented with nevus flammeus and aberrant Mongolian spots. [docksci.com]

[…] 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]

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]

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]