Cafe-Au-Lait Spots: Causes & Reasons

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Possible Causes for Cafe-Au-Lait Spots

Legius Syndrome

Mother's sister and grandfather have some cafe-au-lait spots. [ncbi.nlm.nih.gov]

On assessment he was noted to have multiple cafe-au-lait spots >5 mm in diameter. Cafe-au-lait spots were also noted on his mother and brother. [pediatricneurology.conferenceseries.com]

These patients have multiple cafe-au-lait spots, sometimes associated with skin fold freckling, dysmorphic features, lipomas, and mild learning disabilities. [ncbi.nlm.nih.gov]

Bloom Syndrome

Bloom syndrome is a rare autosomal recessive disorder characterized by short stature, brachydactyly, malar hypoplasia and facial telangiectasia, erythema and cafe au lait [radiopaedia.org]

Bloom syndrome is a rare autosomal recessive disorder characterised by short stature, brachydactyly, malar hypoplasia and facial telangiectasia, erythema and cafe au lait [radiopaedia.org]

spots. [radiopaedia.org]

Neurofibromatosis

Von Recklinghausen's disease or neurofibromatosis 1 is an autosomal dominant disorder with multiple neurofibromas and schwannomas, along with cafe au lait spots and axillary [medical-dictionary.thefreedictionary.com]

The cafe au lait spots increase in number and size with age. Ninety-seven percent of people with NF1 have 6 or more cafe au lait spots by age 20. [medicinenet.com]

Neurofibromatosis type I is characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. [flybase.org]

Russell-Silver Syndrome

[…] extremely short stature and body and facial asymmetry, excessive sweating, a small triangular face which makes the skull look large by comparison, inward curved fingers, cafe-au-lait [medical-dictionary.thefreedictionary.com]

29% of people have these symptoms Abnormal vagina morphology 0000142 Abnormality of the cardiovascular system Cardiovascular abnormality 0001626 Autistic behavior 0000729 Cafe-au-lait [rarediseases.info.nih.gov]

Less commonly observed clinical features include cafe au lait spots, genitourinary anomalies, motor, speech, cognitive delays, and hypoglycemia. [mayomedicallaboratories.com]

McCune-Albright Syndrome

People with neurofibromatosis often have more than 6 light brown spots -- cafe-au-lait spots -- larger than 1.5 centimeters. [mountsinai.org]

au lait ' spots Presentation is variable 1 : leg pain, limp, pathological fracture : ~ 75% abnormal vaginal bleeding: ~25% coast of Maine cafe-au-lait spots predominantly [radiopaedia.org]

This is a picture of a giant cafe-au-lait spot on a person with neurofibromatosis. Causes McCune-Albright syndrome is caused by mutations in the GNAS gene. [mountsinai.org]

Polyostotic Fibrous Dysplasia

au lait ' spots Presentation is variable 1 : leg pain, limp, pathological fracture : ~ 75% abnormal vaginal bleeding: ~25% coast of Maine cafe-au-lait spots predominantly [radiopaedia.org]

When melanotic pigmentation (cafe-au-lait spots) and multiple endocrine hyperfunction are additionally associated it is referred to as albright syndrome ICD-9-CM Volume 2 [icd9data.com]

Other symptoms include: Bone fractures Deformities of the bones in the face Gigantism Irregular, large patchy cafe-au-lait spots There is no specific treatment for McCune-Albright [medlineplus.gov]

Pheochromocytoma-Islet Cell Tumor Syndrome

Human phenotypes related to Pheochromocytoma--Islet Cell Tumor Syndrome: 31 (show all 13) # Description HPO Frequency HPO Source Accession 1 hyperhidrosis 31 HP:0000975 2 cafe-au-lait [malacards.org]

One of their probands had numerous cafe-au-lait spots up to 4 cm in diameter and axillary freckling. There was, however, no family history of von Recklinghausen disease. [syndromefinder.ncchd.go.jp]

One of Carney's patients showed cafe-au-lait spots, measuring up to 4 cm in diameter, and axillary freckling. [symptoma.com]

Neurofibroma

Areas of abnormal skin pigmentation typically include pale tan or light brown discolorations (cafe-au-lait spots), freckling in atypical locations such as under the arms [rarediseases.org]

Carriers of this autosomal dominant trait are prone to the occurrence of benign and malignant tumors which present with cafe-au-lait spots, fibromatous tumors in the skin [symptoma.com]

Six or more light brown-colored birthmarks (cafe-au-lait spots) may be located anywhere on the body. The spots usually appear before about 9 years of age. [orthoinfo.aaos.org]

Seckel Syndrome

[…] contracture Contractures of elbows Elbow contracture Elbow contractures [ more ] 0002987 Facial asymmetry Asymmetry of face Crooked face Unsymmetrical face [ more ] 0000324 Few cafe-au-lait [rarediseases.info.nih.gov]

spots 0007429 Growth delay Delayed growth Growth deficiency Growth failure Growth retardation Poor growth Retarded growth [ more ] 0001510 Heart murmur Heart murmurs 0030148 [rarediseases.info.nih.gov]

Pheochromocytoma

He had four cafe au lait spots on his trunk and several cutaneous and subcutaneous soft tissue lesions over his forehead, neck and extremities. [mayoclinic.org]

For women presenting with hypertension and cafe-au-lait spots and cutaneous neurofibromas, think pheochromocytoma. [cancertherapyadvisor.com]

The subject should be examined for cafe au lait spots if neurofibromatosis is suspected. [clinicalpainadvisor.com]

LEOPARD Syndrome

au lait spots. [ncbi.nlm.nih.gov]

[…] can be clinically suspected in patients presenting with three main features, that is, characteristic facial features (100%), hypertrophic cardiomyopathy (HCM) (87%), and cafe-au-lait [ncbi.nlm.nih.gov]

[…] before the lentigines develop and may be clinically indistinguishable from the cafe au lait spots of neurofibromatosis. [ncbi.nlm.nih.gov]

Johanson-Blizzard Syndrome

[…] in the wall separating the top two chambers of the heart Hole in heart wall separating two upper heart chambers [ more ] 0001631 Autosomal recessive inheritance 0000007 Cafe-au-lait [rarediseases.info.nih.gov]

spot 0000957 Calvarial skull defect Cranial defect Skull defect [ more ] 0001362 Clinodactyly of the 5th finger Permanent curving of the pinkie finger 0004209 Clitoral hypertrophy [rarediseases.info.nih.gov]

Turcot Syndrome

She had several cafe-au-lait spots. [genome.jp]

Affected individuals may also develop other conditions such as malignant tumors of the thyroid or adrenal gland, basal cell carcinomas, cafe-au-lait spots, and lipomas. [symptoma.com]

Additional non-cancerous symptoms associated with Turcot syndrome include small, coffee-colored spots on the skin (cafe-au-lait spots), the formation of multiple, benign fatty [thinkgenetic.com]

Neurofibromatosis-Noonan Syndrome

Watson syndrome (WTSN) [MIM:193520]: A syndrome characterized by the presence of pulmonary stenosis, cafe-au-lait spots, and mental retardation. [genecards.org]

NF1 is characterized by neurofibromas, cafe-au-lait spots, osseous lesions, and brain tumors such as gliomas. [genome.jp]

Multiple pigmented spots of size 1 to 5 mm were noticed all over the body and cafe-au-lait spots ranging from 1 to 4 cm were also present. [jpgmonline.com]

Waardenburg Syndrome Type 2E

Classification developmental, genetic, otorhinolaryngological, skin Phenotypes Anosmia ; Aplasia of the semicircular canal ; Autosomal dominant inheritance ; Blue irides ; Cafe-au-lait [mousephenotype.org]

Waardenburg syndrome type 2E Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Anosmia White eyebrow Abnormality of the integument Cafe-au-lait [familydiagnosis.com]

[…] neurologic abnormalities Mental retardation Increased muscle tone Skeletal Skull Bilateral temporal bone abnormalities Skin Nails Hair Skin Hypopigmented skin patches Freckles Cafe-au-lait [mnglabs.com]

Seckel Syndrome Type 2

[…] cardiovascular system Heart murmur Abnormality of the eye Microphthalmia Abnormality of the genitourinary system Ectopic kidney Hypospadias Abnormality of the integument Few cafe-au-lait [ncbi.nlm.nih.gov]

spots Abnormality of the musculoskeletal system Clinodactyly of the 5th finger Microcephaly Micrognathia Abnormality of the nervous system Microcephaly Mild global developmental [ncbi.nlm.nih.gov]

Familial Progressive Hyper- and Hypopigmentation

Autosomal dominantmultiple cafe-au-lait spots and neurofibromatosis-1: Evidence of non-linkage. [myslide.es]

The arrows denote the margin of a large and fading cafe-au-lait spot on his thigh (a). 218 Hoo and Shrimpton [docslide.net]

'-au-lait spots, a single amino-acid change in KITLG was reported. [ijdvl.com]

Tuberous Sclerosis Type 1

These are known as cafe-au-lait spots. A child may also have skin tumors that are not cancer (benign). These are called neurofibromas. [urmc.rochester.edu]

HP:0001263 13 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648 14 hypopigmented skin patches 58 31 frequent (33%) Frequent (79-30%) HP:0001053 15 multiple cafe-au-lait [malacards.org]

Other signs of NF2 may include seizures, tumors of the membranes around the brain and spinal cord (meningiomas), skin nodules (neurofibromas), and cafe-au-lait spots. [urmc.rochester.edu]

Tuberous Sclerosis Type 2

These are known as cafe-au-lait spots. A child may also have skin tumors that are not cancer (benign). These are called neurofibromas. [urmc.rochester.edu]

Other signs of NF2 may include seizures, tumors of the membranes around the brain and spinal cord (meningiomas), skin nodules (neurofibromas), and cafe-au-lait spots. [urmc.rochester.edu]

Rubinstein-Taybi Syndrome

[…] uterus 0000136 Bimanual synkinesia Hand mirror movements Mirror hand movements Mirror movements [ more ] 0001335 Broad hallux Broad big toe Wide big toe [ more ] 0010055 Cafe-au-lait [rarediseases.info.nih.gov]

spot 0000957 Cataract Clouding of the lens of the eye Cloudy lens [ more ] 0000518 Chorioretinal dystrophy 0001135 Coloboma Notched pupil 0000589 Deeply set eye Deep set [rarediseases.info.nih.gov]

Ataxia Telangiectasia

[…] type ii diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0005978 27 cognitive impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100543 28 multiple cafe-au-lait [malacards.org]

[…] diabetes mellitus 58 31 Frequent (79-30%) HP:0000819 32 neurological speech impairment 58 Very frequent (99-80%) 33 abnormality of eye movement 58 Very frequent (99-80%) 34 cafe-au-lait [malacards.org]

[…] glucose intolerance Head And Neck Head: sinusitis Genitourinary Internal Genitalia Female: hypogonadism Respiratory Airways: bronchiectasis bronchitis Skin Nails Hair Skin: cafe-au-lait [malacards.org]

Severe Idiopathic Pneumococcemia

au lait spot and axillary freckling NFM type 1 > 6 cafe au lait spots over 1.5 cm plus axillary freckling tend to have short stature has multiple skin manifestations cafe [brainscape.com]

[…] in the skin cutaneous and subcutaneous neurofibromas appear in late childhood or adolescence One may also see large unilateral cafe au lait spots in Mccune Albright syndrome [brainscape.com]

au lait spots commonly found in normal individuals, but more than 6 > 1.5 cm is pathognomonic for neurofibromatosis often axillary freckling and increase in hyperpigmentation [brainscape.com]

Neurofibromatosis Type 2

Patient one presented to ophthalmology at the age of 2 years; by 4 years, he developed what was thought to be a plexiform neurofibroma and, with more than 6 cafe au lait spots [ncbi.nlm.nih.gov]

NF1 is characterized by “cafe-au-lait spots” (light brown skin patches) as well as neurofibromas (benign skin tumors). [weillcornellbrainandspine.org]

The dark brown areas are called cafe-au-lait spots. The multiple cutaneous and subcutaneous tumors are nerve sheath neoplasms, called neurofibromas. [icd9data.com]

Myelocerebellar Disorder

[…] rubber bleb nevus -1122500 Diaphyseal medullary stenosis with malignant fibrous histiocytoma -1137050 Brca1 breast cancer type 1 included -1139700 Burkitt lymphoma -1140300 Cafe-au-lait [julesberman.blogspot.com]

He also had triangular face,microcephaly, generalised hyperpigmentation with cafe au lait spots, flat thenar eminence, absent both thumbs with flexor deformity of both wrists [bmrcbd.org]

6084560 Colorectal adenomatous polyposis autosomal recessive -6086150 Oligodontia-colorectal cancer syndrome -6086230 Neuroectodermal tumors supratentorial primitive with cafe-au-lait [julesberman.blogspot.com]

17q11 Microdeletion Syndrome

The cafe au lait spots increase in number and size with age. Ninety-seven percent of people with NF1 have 6 or more cafe au lait spots by age 20. [checkorphan.org]

[…] morphology; Abnormality of cardiovascular system morphology; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Axillary freckling; Bone cyst; Broad neck; Cafe-au-lait [mousephenotype.org]

Overview Neurofibromatosis type 1: NF1, a genetic disorder characterized by a number of remarkable skin findings including multiple cafe au lait (coffee with milk) spots, [checkorphan.org]

Plexiform Neurofibroma

Neurofibromatosis (NF) is a genetically inherited, autosomal dominant disease, characterized by multiple cafe au lait spots, cutaneous neurofibromas and "Lisch nodules." [ncbi.nlm.nih.gov]

ISBN 978-0-07-182734-8. ^ "Cafe Au Lait Spots", by William D James, MD ^ Cafe Au Lait Spots ^ Arnsmeier, Sheryl L.; Riccardi, Vincent M.; Paller, Amy S. (1994). [en.wikipedia.org]

Physical examination results were compatible with NF1 (cafe-au-lait spots; ephelides; skin and subcutaneous neurofibromas; Lisch nodules; thoracic scoliosis) and prostate [rb.org.br]

Florid Cemento-Osseous Dysplasia

Definition Term what condition of the bone often has cafe au lait spots? [flashcardmachine.com]

Fibrous dysplasia Which of the following diseases is associated with cafe au lait spots? a. Polyostotic fibrous dysplasia b. Paget disease c. [quizlet.com]

’ au lait spots. [flashcardmachine.com]

Zosteriform Lentiginosis

Cafe au lait spot cals, partial unilateral lentiginosis pul and beckers nevus bn are recalcitrant pigmentary skin diseases. [lireriha.web.app]

Hur H, Kim YR, Shim DT (2017) The treatment of cafe au lait spot, partial unilateral lentiginosis and Becker's nevus using a high ...Dismorfologia |authorSTREAM ; Ausencia [wztrkibh.ga]

Prevalence of congenital-nevus-like nevi, nevi spili, and cafe au lait spots. Arch Dermatol. 1985 Jun. 121(6):766-9. [Medline]. [emedicine.medscape.com]

Mazabraud Syndrome

au lait spots ), P recocious puberty Diagnostics Laboratory tests ↑ Alkaline phosphatase (occasionally) Normal calcium, PTH, and 1,25-dihydroxyvitamin D levels X-rays of long [amboss.com]

The bony lesions, involved gonads, and cafe-au-lait spots are typically all on the same side of the body. [thefreelibrary.com]

When melanotic pigmentation (cafe-au-lait spots) and multiple endocrine hyperfunction are additionally associated it is referred to as albright syndrome. [icd10data.com]

Calvarial Doughnut Lesions - Bone Fragility Syndrome

After deliverythe child was in no respiratory distress and was discharged home.The child was noted to have bulging cheeks and swollen gingva.There were no cafe au lait spots [docslide.net]