Presentation
We present the cases of three young girls. [unboundmedicine.com]
This new book presents research from around the world. [books.google.ro]
Pigmented spindle cell naevus of Reed presenting in the conjunctiva. Acta Ophthalmol Scand 2000;78:104-6. 4. James H. Graham, Elson B. Helwig. Pigmented spindle cell nevus: A clinicopathologic analysis of ninety-five cases. [koreascience.or.kr]
Entire Body System
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Broad Thumb
[…] apraxia Broad distal phalanx of finger Hyperconvex nail Scanning speech Abnormality of the pulmonary artery Mydriasis Craniofacial asymmetry Muscular hypotonia of the trunk Gait ataxia Polycystic ovaries Nevus sebaceous Prominent nose Renal agenesis Broad [mendelian.co]
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Multiple Congenital Anomalies
congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities (summary by Basel-Vanagaite et al., 2015 ). [mendelian.co]
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Hypoxemia
A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia (reviewed by Weese-Mayer et al., 1999 ).Congenital central hypoventilation syndrome has been associated [mendelian.co]
Immune System
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Splenomegaly
Triangular face Small hand Broad nasal tip Narrow forehead Decreased body weight Sacral dimple Choanal stenosis Short chin Deep palmar crease Macrodontia Malar rash Nevus flammeus of the forehead Decreased head circumference Conductive hearing impairment Splenomegaly [mendelian.co]
Respiratoric
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Hypoventilation
CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL; CCHS Is also known as autonomic control, congenital failure of, ondine curse, congenital;cchs; central congenital hypoventilation syndrome; congenital central alveolar hypoventilation syndrome; ondine curse [mendelian.co]
Gastrointestinal
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Constipation
Polymicrogyria Hirsutism Thick vermilion border Postaxial polydactyly Cerebellar vermis hypoplasia Encephalocele Intellectual disability, profound Deep philtrum Hypercapnia Abnormality of the autonomic nervous system Molar tooth sign on MRI Sleep apnea Constipation [mendelian.co]
Cardiovascular
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Venous Insufficiency
insufficiency Subcutaneous lipoma Epibulbar dermoid Abnormality of the parathyroid gland Death in infancy Epidermal nevus Thymus hyperplasia Bronchogenic cyst Cryptorchidism Muscle weakness Delayed speech and language development Tics Midface retrusion [mendelian.co]
Skin
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Shagreen Patch
patch Hyperostosis Irregular hyperpigmentation Genu recurvatum Exostoses Heterochromia iridis Lower limb asymmetry Communicating hydrocephalus Venous insufficiency Subcutaneous lipoma Epibulbar dermoid Abnormality of the parathyroid gland Death in infancy [mendelian.co]
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Hyperconvex Nails
nail Scanning speech Abnormality of the pulmonary artery Mydriasis Craniofacial asymmetry Muscular hypotonia of the trunk Gait ataxia Polycystic ovaries Nevus sebaceous Prominent nose Renal agenesis Broad thumb Broad hallux Hypoplastic left heart Polysplenia [mendelian.co]
Face, Head & Neck
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Mask-like Facies
[…] ridge Sleep disturbance Bilateral ptosis Neurological speech impairment Corneal opacity Abnormality of movement Unsteady gait Abnormal cerebellum morphology Hypopigmentation of the skin Apraxia Low anterior hairline Involuntary movements Postural tremor Mask-like [mendelian.co]
Neurologic
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Slurred Speech
speech Reduced visual acuity Hearing abnormality Aniridia Hypoplasia of the fovea Hypoplasia of the iris Speech apraxia Broad distal phalanx of finger Hyperconvex nail Scanning speech Abnormality of the pulmonary artery Mydriasis Craniofacial asymmetry [mendelian.co]
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Dysarthria
[…] left heart Polysplenia Low hanging columella Accessory spleen Somatic mosaicism Facial hemangioma Facial hypertrichosis Autosomal dominant contiguous gene syndrome Cerebral cortical atrophy Abnormality of the hairline Ataxia Nystagmus Visual impairment Dysarthria [mendelian.co]
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Scanning Speech
speech Abnormality of the pulmonary artery Mydriasis Craniofacial asymmetry Muscular hypotonia of the trunk Gait ataxia Polycystic ovaries Nevus sebaceous Prominent nose Renal agenesis Broad thumb Broad hallux Hypoplastic left heart Polysplenia Low hanging [mendelian.co]
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Involuntary Movements
movements Postural tremor Mask-like facies Slurred speech Reduced visual acuity Hearing abnormality Aniridia Hypoplasia of the fovea Hypoplasia of the iris Speech apraxia Broad distal phalanx of finger Hyperconvex nail Scanning speech Abnormality of [mendelian.co]
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Gait Ataxia
ataxia Polycystic ovaries Nevus sebaceous Prominent nose Renal agenesis Broad thumb Broad hallux Hypoplastic left heart Polysplenia Low hanging columella Accessory spleen Somatic mosaicism Facial hemangioma Facial hypertrichosis Autosomal dominant contiguous [mendelian.co]
Workup
Initial Workup Medical history. [aao.org]
As part of a diagnostic workup for proptosis, the clinician should inspect the eyelid skin and episclera to look for a blue nevus and perform ophthalmoscopy to rule out uveal melanoma. [omicsonline.org]
Serum
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Hypercapnia
A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia (reviewed by Weese-Mayer et al., 1999 ).Congenital central hypoventilation syndrome has been associated [mendelian.co]
Treatment
Includes numerous new references regarding diagnosis and treatment, as well as new scientific tables containing key information for your clinical practice. [books.google.ro]
Histological they are compound or dermal nevus As treatment, ones recommend early excision, others contraindicates any surgical interventions. [unboundmedicine.com]
Treatment for eye cancer varies by the type and by how advanced it is. It may include surgery, radiation therapy, freezing or heat therapy, or laser therapy. This new book presents research from around the world. [books.google.com]
Conclution:in the treatment of nevus flammeus, copper vapor laser in PDT has more curative effect, the side effects produced by the treatment were mild. 15. [sentencedict.com]
Prognosis
Histopathology helps to determine the prognosis. Sentinel node biopsy should be considered for lesions larger than 2 mm or have high-risk factors on histopathology. Prognosis. [aao.org]
• Conjunctival nevi have excellent prognosis • PAM without atypia can recur in about 11% cases, but it does not progress to melanoma MICROSCOPIC Histologic Features • Anatomic classification (similar to skin) Junctional: Nested but sometimes also lentiginous [basicmedicalkey.com]
The timely intervention could improve prognosis and outcome. Acknowledgments The authors gratefully acknowledge the valuable help of Dr. [ncbi.nlm.nih.gov]
Conclusions: : Conjunctival melanoma from de novo origin imparts worse prognosis than those of PAM or nevus origin. [iovs.arvojournals.org]
Conjunctival malignant melanoma in Denmark: epidemiology, treatment and prognosis with special emphasis on tumorigenesis and genetic profile. Acta Ophthalmol. 2016;94 Thesis 1:1-27 Levecq L, De Potter P, Jamart J. [college-optometrists.org]
Etiology
Etiology includes age-related dehiscence of the levator muscle, Horner's syndrome, third cranial nerve palsy, myasthenia gravis and trauma. 11 Treatment is usually surgical, depending on the etiology. View/Print Figure FIGURE 15. [aafp.org]
No specific etiology was reported in 31 cases (52.5%). Pyogenic granulomas were clinically described as pedunculated or sessile soft vegetation of excessive granulation tissue. [meajo.org]
Hypertelorism Cryptorchidism SOURCES: ORPHANET MENDELIAN More info about ACRODYSOSTOSIS Medium match PONTOCEREBELLAR HYPOPLASIA TYPE 7 Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology [mendelian.co]
Although the etiology is not usually known, there is an association with Muir-Torre syndrome, an autosomal dominant cancer syndrome thought to be a subtype of hereditary nonpolyposis colorectal cancer. [reviewofophthalmology.com]
Exposure to solar ultraviolet radiation is a major etiologic factor in the development of OSSN. 3, 6 The rarity of OSSN in Europe and North America and its high incidence in sub-Saharan African countries and Australia, where people are more exposed to [basicmedicalkey.com]
Epidemiology
The results of this study provide epidemiological information that will be useful for diagnosis and therapy of such tumors. [synapse.koreamed.org]
[…] found commonly in dark-skinned individuals and shows bilateral involvement Definitions • Benign melanocytic proliferation arising on conjunctiva • Most common tumors of conjunctiva, accounting for up to 53% of all conjunctival neoplasms CLINICAL ISSUES Epidemiology [basicmedicalkey.com]
Epidemiology: Primary or secondary orbital melanomas are extremely rare tumors; they represent less than 1% of primary orbital neoplasms. [omicsonline.org]
Epidemiological studies confirm an increasing epidemic of melanoma in adults and evidence exists that this worldwide epidemic is also affecting the teenage population. [analesdepediatria.org]
Conjunctival malignant melanoma in Denmark: epidemiology, treatment and prognosis with special emphasis on tumorigenesis and genetic profile. Acta Ophthalmol. 2016;94 Thesis 1:1-27 Levecq L, De Potter P, Jamart J. [college-optometrists.org]
Pathophysiology
Pathophysiology of Sturge–Weber syndrome. J Child Neurol 2003;18:509–16. 2. Ch’ng S, Tan ST. Facial port-wine stains—clinical stratification and risks of neuro-ocular involvement. J Plast Reconstr Aesthet Surg 2008;61:889–93. 3. [docksci.com]
Changes in glycosaminoglycans, which fill the cell free space in early embryologic development, may play an important role in the neural crest migration, leading to dermal melanosis.[ 1 ] Exact pathophysiology is not yet known. [ncbi.nlm.nih.gov]
Degenerative conditions Cogan's senile plaque Nature : found in older people (generally 70 years old) - the exact pathophysiology is unknown but they represent areas of scleral translucency. They are benign. [patient.info]
Pathophysiology Presence of conjunctival nevi is not always pigmented as 16% of the cases of conjunctival nevi are found to be clinically amelanotic. [omicsonline.org]
Mohs micrographic surgery of the eyelid: An overview of anatomy, pathophysiology, and reconstruction options. Dermatol Surg 2013;39:673-97. 12. Cook BE Jr, Bartley GB. [reviewofophthalmology.com]
Prevention
Ointment-coated gauze pad dressing was applied with moderate pressure to prevent blanching of host bed. Figure 2: (a) The appearance of customized full-thickness skin graft at the end of surgery. [ijo.in]
Pediatricians play an important role in the prevention and early diagnosis of these lesions. [analesdepediatria.org]
Treatment In general, the goals of hemangioma treatment are to prevent loss of life or function, and to prevent scarring, either before or as a result of therapy. [aafp.org]
Early detection and treatment could prevent vision loss. See an eye care professional right away if you have a sudden change in vision, if everything looks dim, or if you see flashes of light. [icdlist.com]