Possible Causes for Shagreen Patch Tuberous Sclerosis patches; and 14 lesions (12%), large shagreen patches. [ncbi.nlm.nih.gov] Only 1 of 5 patients treated for shagreen patches showed improvement at 12 months. Treatment was well tolerated with no serious adverse events. [ncbi.nlm.nih.gov] patch Flesh coloured orange-peel connective tissue naevi of varying sizes, usually on the lower back Shagreen patches Shagreen patch in tuberous sclerosis Shagreen patch [dermnetnz.org] Lymphangioleiomyomatosis Besides facial angiofibromas and shagreen patches over the back, no other physical signs such as those referable to the respiratory system were noted. [nature.com] patch Forehead plaque Retinal hamartoma Laboratory Findings Pulmonary function tests are used to assess the lung damage caused by lymphangiomyomatosis. [wikidoc.org] Finally, signs consistent with TSC, such as facial angiofibromas, periungual fibromas, nail ridging and the shagreen patch, are seen in patients with TSC-LAM. [err.ersjournals.com] Subungual Fibroma SHAGREEN PATCH- Leathery plaques of subepidermal fibrosis,usually situated on the trunk. 13. SHAGREEN PATCH. 14. [slideshare.net] Other lesions which may be present (usually on the trunk) are shagreen patches (these are localized thickening of the skin with a rough surface) and ash-leaf patches (hypopigmented [mrcophth.com] Shagreen Patch The shagreen patch is an area of thickened, elevated pebbly skin (like an orange peel) usually found on the lower back. It can be single or multiple. [tsalliance.org] Renal Fibroma Shagreen patch was seen in the right lumbosacral region ( Fig. 1 b). [revistanefrologia.com] Shagreen patch (connective tissue naevus). Cortical tuber. Subependymal nodule (SEN). Subependymal giant cell astrocytoma (SEGA). [patient.info] patch Cerebral white matter migration lines Multiple retinal nodular hamartomas Gingival fibromas Cortical tuber Non-renal hamartoma Subependymal nodule Retinal achromatic [academic.oup.com] Zosteriform Lentiginosis Patch,) Carney Complex (48 %) ( Lamb Syndrome, Name Syndrome,) Seborrheic Keratosis (48 %) ( Seborrheic Verruca, Senile Wart,) Grovers Disease (45 %) ( Benign Papular Acantholytic [gulfdoctor.net] patch skin colored indurated plaque (collagenoma) usually on lumbosacral area; tuberous sclerosis shin spots macules or papules on anterior legs; diabetes, normal persons [dermadvocate.net] patches Seizures, mental retardation, rhabdomyomas, calcified brain nodules Ataxia telangiectasia Louis-Bar syndrome CALM, telangiectasia of conjunctiva, neck: hyper- and [accesspediatrics.mhmedical.com] Rhabdomyoma of the Myocardium A shagreen patch was present in the right lower lumbar region. Patient was put on valproate. Patient became conscious and oriented over a span of 1 h. [mjdrdypu.org] Clinical manifestations of tuberous sclerosis include skin lesions (depigmented marks, adenoma sebaceum, shagreen patches), cerebral abnormalities (periventricular calcifications [jcnonweb.com] Finally, about the other lesions of TSC, we found hypomelanotic macules in all, facial angiofibroma in 45,1% and shagreen patches in only 19,3%. [bmccardiovascdisord.biomedcentral.com] Tuberous Sclerosis Type 2 Diagnostic methods Diagnosis is based on presence of major (cortical dysplasias; subependymal nodules; SEGA; hypomelanotic macules (≥3, diameter ≥5 mm); shagreen patch; angiofibromas [orpha.net] Detailed examination of the skin and mucosa revealed Shagreen patches, nontraumatic subungual and gingival fibroma, all features of tuberous sclerosis complex. [content.sciendo.com] patch — Multiple retinal hamartomas — Cortical dysplasias† — Subependymal nodules — Subependymal giant cell astrocytoma — Cardiac rhabdomyoma — Lymphangioleiomyomatosis‡ [merckmanuals.com] Tuberous Sclerosis Type 1 Diagnostic methods Diagnosis is based on presence of major (cortical dysplasias; subependymal nodules; SEGA; hypomelanotic macules (≥3, diameter ≥5 mm); shagreen patch; angiofibromas [orpha.net] Other tuberous sclerosis complex symptoms and signs Areas of Thick Leathery Skin (Shagreen Patches) Autism Benign Tumors Developmental Delays Learning Disabilities Raised, [medicinenet.com] Detailed examination of the skin and mucosa revealed Shagreen patches, nontraumatic subungual and gingival fibroma, all features of tuberous sclerosis complex. [content.sciendo.com] Enamel Hypoplasia - Cataracts - Aqueductal Stenosis Major Features: Facial angiofibromas or forehead plaque Ungual or periungual fibroma Hypomelanotic macules >3 Shagreen patch Multiple retinal nodular hamartomas Cortical tuber [sites.google.com] Cutaneous Features The cutaneous lesions of TSC include hypomelanotic macules, the shagreen patch, ungual fibromas, and facial angiofibromas. [clinicalgate.com] A Shagreen patch is an isolated raised plaque in the skin over the lower back or buttocks that is seen in 50% of affected children by adolescence. 2 Ungual fibromas, small [healio.com] Bird-Headed Dwarfism Type Montreal patch 59 32 hallmark (90%) Very frequent (99-80%) HP:0009721 26 congenital pyloric atresia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004399 27 retrognathia 32 HP:0000278 [malacards.org] patch 0009721 Vertebral segmentation defect 0003422 Wide intermamillary distance Wide-spaced nipples Widely spaced nipples Widely-spaced nipples [ more ] 0006610 Percent [rarediseases.info.nih.gov] 0003510 23 vertebral segmentation defect 59 32 hallmark (90%) Very frequent (99-80%) HP:0003422 24 convex nasal ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000444 25 shagreen [malacards.org] Progeroid Syndrome Type Petty patch * Reduced fat under skin Causes - Progeroid syndrome Petty type * Hypothyroidism –Primary congenital hypothyroidism occurs in 1/4,000 live births, more in females [checkorphan.org] patch 0009721 Short distal phalanx of finger Short outermost finger bone 0009882 Short stature Decreased body height Small stature [ more ] 0004322 Sparse hair 0008070 Strabismus [rarediseases.info.nih.gov] patch Long eyelashes in irregular rows Pain Brachydactyly Fever Behavioral abnormality Vomiting Constipation Small foramen magnum Need help with a diagnosis? [mendelian.co] Sequeiros Sack Syndrome Symptoms * Absent fingernails * Small fingernails * Thin skin * Sparse scalp hair * Shagreen patch * Premature birth * Lipoatrophy * Reduced sweating Diagnosis The signs and [checkorphan.org] Dyschromatosis Universalis Hereditaria Type 1 Shagreen patch (connective tissue nevus) 5. Multiple retinal nodular hamartomas 6. Cortical tuber 7. Subependymal nodule 8. Subependymal giant cell astrocytoma 9. [ijdvl.com] She also had multiple angiofibromas on the face [Figure - 2], numerous oval, hypopigmented macules all over the trunk, confetti skin lesions, a shagreen patch over the right [ijdvl.com] Hamartoma of the Central Nervous System patches -Minimal to no risk of malignant transformation of skin lesions -Skin lesions tend to increase in size and number through puberty, and then tend to stabalize over [pedclerk.bsd.uchicago.edu] Major features are cortical tubers, subependymal nodules, subependymal giant cell astrocytomas (SEGA), hypomelanotic skin macules, shagreen patches, retinal nodular hamartomas [neuropathology-web.org] Salient dermatologic findings of TSC are hypopigmented macules (ash-leaf spots), shagreen patches, periungual fibromas, and adenoma sebaceum. [emedicine.medscape.com] Fibular Dimelia-Diplopodia Syndrome patch Skin hypoplasia/aplasia/atrophy Skin photosensitivity Skin tumours/lumps/epidermal cysts Adenoma sebaceum Cutaneous neurofibromas/facial angiofibromas/Koenen tumors [readbag.com] […] www.orphanet.net/ 15 of 39 Thesaurus of Clinical Signs and Symptoms Anomalies of skin, subcutanoeus tissue and mucosae (continued) Seborrhea/hyperseborrhea/seborrheic dermatitis Shagreen [readbag.com] Hereditary Mucoepithelial Dysplasia Shagreen patches can be seen in patients with: a. Multiple Hamartoma syndrome b. Hereditary hemorrhagic telangictasia c. Tuberous sclerosis * d. [fac.ksu.edu.sa] /periungual fibromas, shagreen patches, ash-leaf spots, CNS findings (seizures, mental retardation), cardiac rhabdomyomas, and angiomyolipoma CNS findings associated with [studystack.com] • Two other characteristic skin lesions are • connective tissue hamartomas –shagreen patches • ovoid areas of hypopigmentation -ashleaf spots. [slideshare.net] Akesson Syndrome Åkesson syndrome - X-linked recessive condition featuring cutis verticis gyrata, shagreen patch, hypoplastic thyroid disease, mental retardation, skull abnormality, and short [medical-dictionary.thefreedictionary.com] patch Weak eye muscles Causes - Akesson syndrome Not supplied. [checkorphan.org] […] retardation Excessive skin folds on scalp Excessive skin furrows on scalp Scoliosis Short stature Seizures Restricted joint mobility Small head Increased muscle tone Spasticity Shagreen [checkorphan.org] Northern Epilepsy Shagreen patches are plaques with an irregular surface, typically located in the lumbosacral area. [clinicaladvisor.com] Clinically the condition is recognised by the typical cutaneous lesions—hypopigmented macules (fig 1), flat forehead fibromata, adenoma sebaceum, shagreen patches, and sub-ungual [jnnp.bmj.com] patches, cephalic plaques, ungual fibromas); brain (cortical dysplasias, sub-ependymal nodules and sub-ependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability [aetna.com] Subependymal Giant Cell Astrocytoma Skin manifestations like shagreen patches were present in two, facial angiofibromas in three, periungal fibromas in two, hypopigmented macules in two and ash-leaf spot in [ncbi.nlm.nih.gov] (J Child Neurol 1999;14:401) Major features Facial angiofibromas or forehead plaque Nontraumatic ungual or periungual fibroma Hypomelanotic macules (more than 3) Shagreen [pathologyoutlines.com] patch(subepidermal fibrosis) The most common skin lesions are hypomelanotic macules, which are ovoid depigmented areas with irregular margins that are best visualized by [slideshare.net] Deafness - Opticoacoustic Nerve Atrophy - Dementia Syndrome […] signs/sxsloss of pain/temp in upper extremeties (spinothalamis) motor loss in hands (anterior horn cells) Tuberous sclerosisAD mental retardations hamartomas of CNS/kidney shagreen [memorize.com] patches skin Tuberous sclerosis angiomyolipomas kidneys; rhabdomyoma of heart Neurofibromatosis AD; pigmented neurofibromas; cafe au lait spots Associations pheochromocytoma [studystack.com] patches on skin - "ash-leaf" hypopigmented lesions angiomyolipomas of kidneys rhabdomyoma of heart NeurofibromatosisAD pigmented neurofibromas cafe au lait spots Neurofibromatosis [memorize.com] Isolated Congenital Breast Hypoplasia or Aplasia The shagreen patch is a collagenoma, the dermis being replaced by broad bundles of fibrous tissue with diminished or absent elastica ( Figs 21.24, 21.25 ). [basicmedicalkey.com] […] may also affect the hair (poliosis), eyebrows, eyelashes, and occasionally the iris. 5, 6, 8, 11, 12, 15 Frequently seen is the shagreen patch – peau de chagrin (skin like [basicmedicalkey.com] 11 These macular lesions are said to be present in 70% of patients with tuberous sclerosis. 2 They are evident at birth or develop in the neonatal period. 6 Hypopigmented patches [basicmedicalkey.com] Benign Cephalic Histiocytosis Patch,) Differentials from Google. [gulfdoctor.net] ( Infantile Papular Acrodermatitis, Papular Acrodermatitis Of Childhood, Papulovesicular Acrolocated Syndrome,) Connective Tissue Nevus (57 %) ( Collagenoma, Elastoma, Shagreen [gulfdoctor.net] Hirschsprung Disease - Nail Hypoplasia - Dysmorphism Facial angiofibromas, forehead plaque, periungual fibroma, hypomelanotic macules, Shagreen patches, multiple retinal hamartomas, Giant cell astrocytomas, SENs, Cortical tumors [quizlet.com] Severe Idiopathic Pneumococcemia patch (raised orange peel appearance) adenoma sebaceum (skin colored or pink lesion often present on face in late childhood to early adolescence) - which is a misnomer as [brainscape.com] […] rash on the back lasts 4-6 weeks nobody knows what causes it itchy The classic lesions are: - ash leaf macule (often present at birth, most easily seen with a wood's lamp) shagreen [brainscape.com] Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome Extrarenal manifestations of TS include mental retardation, epilepsy, facial angiofibromas, dermatologic findings (shagreen patch, hypomelanotic macules), retinal hamartoma [hawaii.edu] Shagreen patches are present in about half of people with TSC, appearing in childhood. [6] They are areas of thick leathery skin that are dimpled like an orange peel, and [en.wikipedia.org] Retinal involvement, occurring in 50% of “Shagreen patches” (lower back) 30 ≥10 cases, is almost always asymptomatic. [slideshare.net] Hereditary Neurocutaneous Angioma Cutaneous Features The cutaneous lesions of TSC include hypomelanotic macules, the shagreen patch, ungual fibromas, and facial angiofibromas. [neupsykey.com] Shagreen or sharkskin patches are dermal fibromas which usually develop after 10 years of age. They occur mostly in the lumbosacral region. [thamburaj.com] The shagreen patch most often is found on the back or flank area; it is an irregularly shaped, slightly raised, or textured skin lesion (see Fig. 65.2, B ). [neupsykey.com] Diffuse Pulmonary Lymphangiomatosis patch Hypopigmented patch in the retina Angiofibroma in the face (more than three) Ungal and periungal fibromas Retinal hamartomas Rhabdomyoma in the heart Lymphangiomatosis [medical-dictionary.thefreedictionary.com] 皮膚:葉状白斑、 shagreen patch、血管線維腫等なし。 家族歴:特記事項なし。 頭部CT/MRI:所見なし。 [trc-rad.jp] Cortical tubers Non-renal hamartoma Subependymal nodules Confetti-like skin lesions Hypomelanocytic macule Multiple renal cysts (at least 3 or more and larger than 5 mm) Shagreen [medical-dictionary.thefreedictionary.com] Sacrococcygeal Dysgenesis Association الصفحة 376 - Major features Facial angiofibromas or forehead plaque Nontraumatic ungual or periungual fibroma Hypomelanotic macules (three or more) Shagreen patch (connective [books.google.com] Congenital Smooth Muscle Hamartoma Shagreen patch is commonly associated with tuberous sclerosis. [dermnetnz.org] Connective tissue nevi of the collagen type may appear as the shagreen patch of tuberous sclerosis, and patients found to have collagen-type connective tissue nevi should [the-medical-dictionary.com] Collagenomas Collagenomas include: Familial cutaneous collagenoma (FCC) Isolated collagenomas Shagreen patch (associated with tuberous sclerosis ) Connective tissuse naevi [dermnetnz.org] Thumb Deformity - Alopecia - Pigmentation Anomaly Syndrome A Shagreen patch is an isolated raised plaque in the skin over the lower back or buttocks that is seen in 50% of affected children by adolescence. 2 Ungual fibromas, small [healio.com] patch, facial angioma/adeoma sebaceum, ungual fibromas, seizures/infantile spasms, cardiac rhabdomyomas, renal tumors Term Definition nuchal webbing, pedal edema, congenital [flashcardmachine.com] patch, facial angiofibromas) Focal neurologic symptoms or examination findings (cortical tubers) Table 6. [healio.com]