These were also present on the lower back. On the back, both nevus flammeus and nevus fuscoceruleus were present independently, but in close proximity to each other. [bioline.org.br]

While the nevus sebaceus is usually present at birth, the speckled lentiginous nevi may be identified in the first 2 years of life or later. [visualdx.com]

Some small, flat, angiomatous lesions were present on the right side of her body. A diffuse ichthyosislike hyperkeratosis was also present. [doi.org]

Neurologically, the patient presented paralysis of the left third cranial nerve, with no evidence of other cerebral abnormalities. [actasdermo.org]

• Weakness

  Musculoskeletal findings can include hemiatrophy, scoliosis, kyphosis, hypophosphatemic vitamin D-resistant rickets, and muscular weakness. Reported ophthalmological findings include strabismus, ptosis, congenital glaucoma, coloboma, and esotropia. [visualdx.com]

  Characteristic associations are: hemiatrophy with muscle weakness segmental dysesthesia segmental hyperhidrosis epilepsy and deafness Ptosis strabismus. Etiopathogenesis This section has been translated automatically. [altmeyers.org]

  This presentation is atypical as speckled lentigines were in a segmental pattern instead of the characteristic checkerboard pattern and there was absence of muscle weakness, dysesthesia and neurological abnormalities. [ijdvl.com]

  She also complained of weakness of the grip of left hand for the past 3 years. There was no history of trauma. Her medical history was otherwise unremarkable. [idoj.in]

• Precocious Puberty

  Epidermal nevus syndrome: association with central precocious puberty and woolly hair nevus. J Am Acad Dermatol 1996;35: 839-42 [PubMed] [Google Scholar] 3. Happple R, Hoffmann R, Restano L, Caputo R, Tadini G. [ncbi.nlm.nih.gov]

  Epidermal nevus syndrome: association with central precocious puberty and woolly hair nevus. J Am Acad Dermatol 1996 ; 35: 839 – 42 Google Scholar | Crossref | Medline | ISI 3. Happple, R., Hoffmann, R., Restano, L., Caputo, R., Tadini, G. [doi.org]

  puberty associated with HRAS mutation. 62 Martin RJ...Rajan N 28489335 2018 13 Phacomatosis pigmentokeratotica: A very rare twin spotting phenomenon. 62 Karia DR...Shah BJ 28799528 2018 14 HRAS mutation in phacomatosis pigmentokeratotica without extracutaneous [malacards.org]

  puberty - Premature ageing - Proteinuria - Short hand / brachydactyly - Short stature / dwarfism / nanism - Thick skin / pachydermia / orange skin - Thyroid anomalies Occasional - Abnormal / polycystic ovaries - Megaureter / hydronephrosis / pyeloureteral [csbg.cnb.csic.es]

  puberty * Deafness * Mild mental retardation * Seizures * Droopy eyelids * Strabismus Causes - Phacomatosis pigmentokeratotica Not supplied. [checkorphan.org]

• Disability

  Among these, neurological findings are the most common and include hemiparesis, hyperhidrosis, dysesthesia, hyperpathia, intellectual disability, seizures, and other sensory and/or motor neuropathies. [visualdx.com]

  […] syndrome Alopecia-intellectual disability syndrome Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome Angora hair nevus Annular epidermolytic ichthyosis Atrichia with papular lesions Autoimmune bullous skin disease Autoinflammatory [se-atlas.de]

  Please enable JS and disable any ad blocker [contemporarypediatrics.modernmedicine.com]

  The 2 most frequent phenotypes of epidermal nevus syndrome, linear keratinocytic nevus syndrome and linear sebaceous nevus syndrome are associated with neurologic manifestations, mainly epilepsy and intellectual disability. [medlink.com]

• Renal Artery Stenosis

  Other clinical features include facial dysmorphism, conductive hearing loss, and aortic and renal artery stenosis. Abdominal wall and vaginal rhabdomyosarcoma, nephroblastoma (Wilms tumor), and pheochromocytoma have been reported. [visualdx.com]

  Two cases of PPK have been reported associated with arterial hypertension: one case of extrinsic compression of renal artery by spinal roots tumour (28), and one case with both aortic stenosis and renal artery stenosis (29). [medicaljournals.se]

  Aizawa K, Nakamura T, Ohyama Y, Saito Y, Hoshino J, Kanda T, Sumino H, Nagai R (2000) Renal artery stenosis associated with epidermal nevus syndrome. Nephron 84: 67–70. [link.springer.com]

• Hypertension

  Well defined phenotypes. 62 Happle R 20542174 2010 37 Phacomatosis pigmentokeratotica with nephroblastoma and juvenile hypertension. 62 Jacobelli S...Hadj-Rabia S 20526546 2010 38 Speckled lentiginous nevus syndrome associated with musculoskeletal abnormalities [malacards.org]

  In addition to this paediatric renal tumour, the coexistence of juvenile arterial hypertension suggests an associated vascular defect. The link between the extracutaneous manifestations and cutaneous twin spot phenotype is discussed. [medicaljournals.se]

  At the time of administration of pethidine, vital signs were within normal range excepting for persistent hypertension (BP 140/90 mmHg). [accjournal.org]

• Muscle Weakness

  Characteristic associations are: hemiatrophy with muscle weakness segmental dysesthesia segmental hyperhidrosis epilepsy and deafness Ptosis strabismus. Etiopathogenesis This section has been translated automatically. [altmeyers.org]

  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]

  Neurological defects in phakomatosis pigmentokeratotica may include hemiatrophy (in which one side of the body under-developed), muscle weakness, sensory nerve abnormalities and hyperhidrosis (exessive sweating). [dermnetnz.org]

  This presentation is atypical as speckled lentigines were in a segmental pattern instead of the characteristic checkerboard pattern and there was absence of muscle weakness, dysesthesia and neurological abnormalities. [ijdvl.com]

• Strabismus

  Reported ophthalmological findings include strabismus, ptosis, congenital glaucoma, coloboma, and esotropia. Other clinical features include facial dysmorphism, conductive hearing loss, and aortic and renal artery stenosis. [visualdx.com]

  […] 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 and strabismus [popflock.com]

  […] syndrome.[4] It was first described by Happle et al.[5] 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 [wikiwand.com]

  Strabismus may be seen in Sturge-Weber, Klippel-Trenaunay-Weber, ataxia-telangiectasia, and incontinentia pigmenti (noticing a pattern with incontinentia pigmenti?). Iris heterochromia may be seen in Sturge-Weber and Klippel-Trenaunay-Weber. [ophthalmologyreview.org]

• Esotropia

  Reported ophthalmological findings include strabismus, ptosis, congenital glaucoma, coloboma, and esotropia. Other clinical features include facial dysmorphism, conductive hearing loss, and aortic and renal artery stenosis. [visualdx.com]

  He had mild eye abnormalities (ie, large vessel abnormalities, with common tracts of temporal–superior nasal and nasal–temporal inferior) with esotropia. Facial dysmorphism was present. [doi.org]

• Hyperhidrosis

  Among these, neurological findings are the most common and include hemiparesis, hyperhidrosis, dysesthesia, hyperpathia, intellectual disability, seizures, and other sensory and/or motor neuropathies. [visualdx.com]

  Less common associations include lateral curvature of the spine and hyperhidrosis. We present a patient with PPK and unilateral Raynaud phenomenon in addition to a segmental distribution of melanocytic nevi, hyperhidrosis, and scoliosis. [mdedge.com]

  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]

  […] speckled lentiginous nevus. [1] : 634-5 [2] : 776 It is an unusual variant of epidermal 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 [popflock.com]

• Sweating

  He also complained of excessive sweating of the underarms, palms and soles and sweat-soaked clothing. He was born to healthy non-consanguineous parents through a normal vaginal delivery with an insignificant antenatal and birth history. [ijdvl.com]

  Other hair follicle unit lesions ( trichilemmoma, infundibular cyst and sebaceoma) and sweat gland tumours ( eccrine poroma, syringocystadenoma papilliferum) may also arise. [dermnetnz.org]

  Expression of a Mosaic RASopathy With the BRAF-Glu586Lys Mutation. 62 Ayala D...Jorda E 26703821 2016 19 Apocrine intraductal carcinoma in situ in nevus sebaceus: two case reports. 62 Llamas-Velasco M...Rutten A 25302933 2014 20 Combined melanocytic and sweat [malacards.org]

• Cafe-Au-Lait Spots

  Hyperpigmented macules may be seen in NF1 & NF2 (cafe-au-lait spots), tuberous sclerosis (cafe-au-lait spots), and incontinentia pigmenti ("splashed paint" spots). Basic and Clinical Science Course, Section 6: Pediatric Ophthalmology and Strabismus. [ophthalmologyreview.org]

  In addition, a giant cafe-au-lait spot appeared on the right side of the boy's chest, abdomen, and hip extending across his back to the left side of the neck and left shoulder. [cyberleninka.org]

  What are the size and number criteria for cafe-au-lait spots used for diagnosing neurofibromatosis? 2. What are the primary diagnostic criteria for diagnosing tuberous sclerosis? 3. [pediatriceducation.org]

  Breneman). 45 Genetic Epidermal Syndromes with Cafe-au-lait Macules. Familial Multiple Cafe-au-lait Spots (Nancy Burton Esterly). Neurofibromatosis (Nancy Burton Esterly, Eulalia Baselga, & Sheila S. Galbraith). [bookdepository.com]

  […] pigmenti in a male neonate p. 217 Vijay Gandhi, Amit Kumar Dhawan, Kavita Bisherwal, VK Arora DOI :10.4103/2319-7250.165617 [ABSTRACT] [HTML Full text] [PDF] [Mobile Full text] [EPub] [Sword Plugin for Repository] Beta Hypomelanosis of Ito associated with cafe-au-lait [ijpd.in]

• Macula

  Vitiligo is a common skin disease characterized by depigmented maculae resulting from a reduction of the number and function of melanocytes. Paper-12174872. [ihop-net.org]

• 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]

• Seizure

  Among these, neurological findings are the most common and include hemiparesis, hyperhidrosis, dysesthesia, hyperpathia, intellectual disability, seizures, and other sensory and/or motor neuropathies. [visualdx.com]

  A case of Phakomatosis Pigmentovascularis type IIb with seizures. Indian Journal of Clinical Dermatology. 2017;1:37-38. [e-ijcd.in]

  There are often other anomalies, most commonly neurological or skeletal, such as hemiatrophy, dysaesthesia and hyperhidrosis in a segmental pattern, mild mental retardation, seizures, deafness, ptosis and strabismus6. [ncbi.nlm.nih.gov]

  […] variant of epidermal 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 [popflock.com]

• Dysesthesia

  Among these, neurological findings are the most common and include hemiparesis, hyperhidrosis, dysesthesia, hyperpathia, intellectual disability, seizures, and other sensory and/or motor neuropathies. [visualdx.com]

  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]

  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]

  Characteristic associations are: hemiatrophy with muscle weakness segmental dysesthesia segmental hyperhidrosis epilepsy and deafness Ptosis strabismus. Etiopathogenesis This section has been translated automatically. [altmeyers.org]

• Dystonia

  Phacomatosis pigmento-pigmentaria: aberrant dermal melanocytosis and nevus spilus. 62 Wolf R...Baroni A 21906489 2011 34 Variant of phacomatosis pigmentokeratotica. 62 Park HY...Hong SP 21352309 2011 35 Widespread nevus spilus associated with torsion dystonia [malacards.org]

  Tome–Brune–Fardeau syndrome Tongue neoplasm Toni–Debre–Fanconi maladie Toni–Fanconi syndrome TORCH syndrome Toriello–Carey syndrome Toriello–Lacassie–Droste syndrome Toriello syndrome Toriello–Higgins–Miller syndrome Torres–Ayber syndrome Torsades de pointes Torsion dystonia [sosu.us]

• Hyperalgesia

  The anomalies include pectoral muscle hypertrophy, leg sensorimotor neuropathy, popliteal nerve palsy, limb asymmetry, hyperhidrosis, dysesthesia, hyperalgesia, scoliosis, and rarely extrapyramidal symptoms. [clinicaladvisor.com]

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]

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]

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]

• 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]

  Verrucous epidermal naevus and naevus spilus associated with lower limb asymmetry and right bundle-branch block: A case of phacomatosis pigmentokeratotica?. Clin Exp Dermatol, 37 (2012), pp. 74-75 [5] R. Happle. [actasdermo.org]

  Other noted clincal features include gingival hypertrophy, right bundle branch block, dyslexia, developmental delay, obsessive compulsive disorder, Tourette’s syndrome, and melanoma. [clinicaladvisor.com]

Two laser treatments have been undertaken under general anaesthesia. [ncbi.nlm.nih.gov]

You can help by adding to it. ( November 2017 ) Treatment [ edit ] This section is empty. You can help by adding to it. ( November 2017 ) See also [ edit ] List of cutaneous conditions References [ edit ] ^ Freedberg, et al. (2003). [en.wikipedia.org]

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]

Treatment Options Treatment options are summarized in Table I. Table I. [clinicaladvisor.com]

Treatment Treatment is the same as typically used for open-angle glaucoma. Douglas J. Rhee, MD, is an associate professor, Harvard Medical School, Massachusetts Eye & Ear Infirmary, Boston. Dr. [glaucomatoday.com]

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]

The specific symptoms present, severity and prognosis can vary greatly depending on the specific type of ENS and the extent extra-cutaneous symptoms. The onset and progression of these disorders varies greatly as well. [accesspediatrics.mhmedical.com]

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]

Prognosis The prognosis is very good. [patient.info]

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]

Classification of these conditions often presents many nosological challenges, since underlying etiologies and pathogenetics are often not known. [howlingpixel.com]

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]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

Etiology The etiology of NS is not entirely clear, however, mutations in HRAS have been implicated. [clinicaladvisor.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]

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]

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]

Pathophysiology Pathophysiology for most syndromes is unknown. However genetic defects for some well-recognized conditions have recently been discovered. [dermatologyadvisor.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 Unknown. Diagnosis Based on the clinical findings. [accesspediatrics.mhmedical.com]

According to the article, based on examination of the issues, the E/M code should be billed as an established patient visit, as exam elements are normally not documented for the medical issues presented by a patient during preventive visits. [empr.com]

Prevention - Phacomatosis pigmentokeratotica Not supplied. Diagnosis - Phacomatosis pigmentokeratotica Not supplied. Prognosis - Phacomatosis pigmentokeratotica Not supplied. [checkorphan.org]

The information presented here is not intended to diagnose, treat, cure or prevent any disease. Read disclaimer. [gulfdoctor.net]

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]

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]