Cafe-au-lait-spots: Causes & Reasons

2.1

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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]

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]

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]

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]

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]

Additionally, NF1-like cafe-au-lait spots have been described in biallelic mismatch repair deficiency, another condition featuring gastrointestinal polyps. [ncbi.nlm.nih.gov]

Bloom Syndrome

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]

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]

spots. [radiopaedia.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]

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]

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]

McCune-Albright syndrome (MAS) is characterized by the triad of fibrous dysplasia (FD), cafe-au-lait spots and precocious puberty (PP). [ncbi.nlm.nih.gov]

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 on [radiopaedia.org]

Polyostotic Fibrous Dysplasia

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]

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 on [radiopaedia.org]

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]

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]

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]

Terms Other Names Learn More: HPO ID Percent of people who have these symptoms is not available through HPO Autosomal dominant inheritance 0000006 Axillary freckling 0000997 Cafe-au-lait [rarediseases.info.nih.gov]

[…] cell tumor Eyes: hypertensive retinopathy Endocrine: episodic hypertension Cardiac: congestive heart failure tachycardia Neuro: cerebral hemorrhage Skin: axillary freckling cafe-au-lait [malacards.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]

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]

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]

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]

Subcutaneous and cutaneous lesions in a young man with neurofibromatosis type 2; note paucity of cafe-au-lait spots. [emedicine.medscape.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]

Mazabraud Syndrome

There was no upper limb length discrepancy, cafe au lait spot or any endocrine problem. [ijoonline.com]

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

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]

Zosteriform Lentiginosis

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]

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

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]

Jaffe-Campanacci Syndrome

Synopsis multiple cafe-au-lait spots multiple non-ossifying fibromata of the bones [humpath.com]

Because of the presence of cafe-au-lait spots, several authors1-4 have studied the relationship between Jaffe-Campanacci syndrome and neurofibromatosis. [semanticscholar.org]

MalaCards integrated aliases for Fibromatosis Multiple Non Ossifying: Name: Fibromatosis Multiple Non Ossifying 53 Disseminated Nonossifying Fibromas in Association with Cafe-Au-Lait [malacards.org]

Microcephalic Osteodysplastic Primordial Dwarfism Type II

Cafe-au-lait spots occur and increase in number over the rst2 years. [documents.tips]

There were areas of hypo- and hyperpigmentation, cutis marmorata, and few cafe au lait spots on skin. Parents were first-degree cousins. [jcrpe.org]

[…] hyperflexibility Joints move beyond expected range of motion 0005692 Low-set ears Low set ears Lowset ears [ more ] 0000369 Microdontia Decreased width of tooth 0000691 Multiple cafe-au-lait [rarediseases.info.nih.gov]

Watson Syndrome

From Wikidata Jump to navigation Jump to search No description defined WATSON SYNDROME; WTSN WATSON SYNDROME Pulmonic Stenosis With Cafe-Au-Lait Spots Cafe-Au-Lait Spots With [wikidata.org]

Symptoms Café au lait spots In Watson syndrome cafe-au-lait spots are associated with pulmonic stensis. Systematic References: 1. [moldiag.com]

Format Definition A syndrome characterized by the presence of pulmonary stenosis, cafe-au-lait spots, and mental retardation. [uniprot.org]

Occlusion of the Ophthalmic Artery

Abstract Etiological investigation of a 15-year-old boy with left ophthalmic artery occlusion led us to a diagnosis of neurofibromatosis type I as there were numerous large cafe-au-lait [ncbi.nlm.nih.gov]

spots, axillary freckling, and brain MRI changes consistent with a hamartoma. [ncbi.nlm.nih.gov]

Osteitis Fibrosa Disseminata

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]

Cafe-au-lait spots-light brown hyperpigmented macular skin lesions with irregular borders-"Coast of Maine" cafe-au-lait spots. Remain constant in size and number. [gait.aidi.udel.edu]

Usually associated with cafe-au-lait spots and endocrinopathies. Polyostotic form is most common in females (3 to 1). [gait.aidi.udel.edu]

Melhem-Fahl Syndrome

It is characterized by replacement of normal bone tissue with areas of abnormal fibrous growth (fibrous dysplasia); patches of abnormal skin coloring with jagged borders (cafe-au-lait [diseaseinfosearch.org]

[…] the vertex Furuncular myiasis mesangiocapillary spots Wolff type Mental retardation Circumscribed disseminated Cafe-au-lait spots with pulmonic keratosis Jadassohn Lew type [yumpu.com]

spots); and abnormalities in the glands that regulate the body's rate of growth, sexual development, and other ... [diseaseinfosearch.org]

Noonan Syndrome-Like Disorder with Juvenile Myelomonocytic Leukemia

[…] cardiac, cardiac malformation, developmental, genetic, neoplastic, neurological Phenotypes Aortic valve stenosis ; Autosomal dominant inheritance ; Bicuspid aortic valve ; Cafe-au-lait [mousephenotype.org]

Physical findings include: Skin: eczema, xanthoma, cafe-au-lait spots, macular-papular rash Lymphadenopathy Hepatosplenomegaly Bleeding Respiratory symptoms: chronic tachypnea [78stepshealth.us]

spot ; Chylothorax ; Cryptorchidism ; Cubitus valgus ; Deep philtrum ; Delayed speech and language development ; Depressed nasal bridge ; Downslanted palpebral fissures ; [mousephenotype.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 au [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]

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]

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]

"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]

Neurofibromatosis Type 6

MalaCards based summary : Autosomal Dominant Café Au Lait Spots, also known as neurofibromatosis type 6, is related to cafe-au-lait spots, multiple and pulmonary valve disease [malacards.org]

Cafe-au-lait spots are flat brown skin spots. They are called “cafe-au-lait” from the French term for “coffee with milk”, because of their color. [nothing-is-forever.de]

Cafe - Au - Lait Spots, Multiple or NF-6 Victor A. [ibis-birthdefects.org]

Absent Thumb - Short Stature - Immunodeficiency Syndrome

spots Multiple neurofibromas Lisch nodules Optic pathway glioma NF1 - Neurofibromatosis 1 Neurofibromin protein - Chromosome 17, AD Bilateral acoustic neuromas Multiple cafe-au-lait [quizlet.com]

au lait spots -neurofibromas (nerve tumor) -optic glioma -frecklying of axilla or inguinal -iris hamartoma -cortical thinningof long bones, sphenoid dysplasia relatvie with [brainscape.com]

Definition thrombocytopenia with large platelets, neutrophils with large blue Dohle-like bodies; most asymmtopmatic Term Definition GNAS1 gene polyostotic fibrous dysplasia, cafe-au-lait [flashcardmachine.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]

Congenital Non-Neoplastic Nevus

au lait spot, Hemangioma, Mongolian spot, Nevus, Strawberry markBirthmarks are abnormalities of the skin that are present when a baby is born. [medicbind.com]

[…] diagnosis of injury 0% Primary diagnosis of mental health problems 0% Primary diagnosis of substance abuse 0% Primary diagnosis of Alcohol 0% Unclassified 100% Also called: Cafe [medicbind.com]