Cafe-Au-Lait Spots: Causes & Reasons

Possible Causes for Cafe-Au-Lait Spots

Mother’s sister and grandfather have some cafe-au-lait spots. [neurologia.com]

For example, 6 or more cafe au lait spots (CALMS) and freckles in the armpits, or 6 or more CALMS and Lisch Nodes on their iris, or 6 or CALMS and a plexiform neurofibroma [nfmidwest.org]

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

McCune-Albright Syndrome

Patients with multiple cafe-au-lait spots. Patients with polyostotic fibrous dysplasia in bones, joints or skull. ADDITIONAL RESOURCES: [saintfrancis.com]

Non-endocrine manifestations include the cafe-au-lait spots, polyostotic fibrous dysplasia, and renal phosphate wasting. [cancertherapyadvisor.com]

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

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]

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]

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]

It is associated with gliomas and skin manifestations such as cafe au lait spots.[4] TS2 is less frequent and occurs typically in offspring of families with clustering of [ncbi.nlm.nih.gov]

Fanconi Anemia Complementation Group P

[…] limbs Absent thumb Hypoplasia of the radius Short thumb Abnormality of the genitourinary system Cryptorchidism Horseshoe kidney Pelvic kidney Abnormality of the integument Cafe-au-lait [ncbi.nlm.nih.gov]

spot Vitiligo Abnormality of the musculoskeletal system Microcephaly Micrognathia Ear malformation Hearing impairment Growth abnormality Growth delay Short stature Neoplasm [ncbi.nlm.nih.gov]

Neurofibromatosis-Noonan Syndrome

For example, 6 or more cafe au lait spots (CALMS) and freckles in the armpits, or 6 or more CALMS and Lisch Nodes on their iris, or 6 or CALMS and a plexiform neurofibroma [nfmidwest.org]

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

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

Waardenburg Syndrome Type 2E

[…] eye Blue irides Heterochromia iridis Hypopigmentation of the fundus Hypoplasia of the iris Iris hypopigmentation Nystagmus Ocular albinism Abnormality of the integument Cafe-au-lait [ncbi.nlm.nih.gov]

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]

Familial Progressive Hyperpigmentation with or without Hypopigmentation

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

It also differs from the Legius syndrome, characterized by familial cafe-au-lait spots and skin fold freckling, caused by mutations in SPRED1. [typeset.io]

lentigines and sometimes Cafe-au-lait spots (CALs). [x-mol.com]

LEOPARD Syndrome

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

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]

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

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 Microcephaly Micrognathia Abnormality of the nervous system Cerebellar hypoplasia Mild global developmental delay Abnormality [ncbi.nlm.nih.gov]

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]

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]

大腿骨頭骨端の無血管性壊死)　[HP:0005743]　[16115] 　Bifid uterus　(二分子宮)　[HP:0000136]　[1424] 　Bimanual synkinesia　(手の鏡像運動)　[HP:0001335]　[02621] 　Broad hallux　(幅広い母趾)　[HP:0010055]　[15501] 　Cafe-au-lait [syndromefinder.ncchd.go.jp]

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]

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]

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]

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

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]

Jaffe-Campanacci Syndrome

HOMME PATHOLOGIE OSTEOARTICULAIRE DERMATOLOGIE Keyword (en) SYNDROME FIBROMA BONE CAFE AU LAIT SPOT MENTAL RETARDATION CHILD RADIOGRAPHY PATHOLOGY TUMOR SKIN DISEASE HUMAN [pascal-francis.inist.fr]

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

Extraskeletal congenital anomalies of this syndrome include cafe-au-lait spots, mental retardation, cardiovascular abnormalities, ocular deformities, hypogonadism or cryptorchidism [avesis.ogu.edu.tr]

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]

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]

Diagnosis The diagnosis of McCune-Albright syndrome may be suspected at birth based upon identification of the characteristic skin pigmentations (cafe-au-lait spots). [rarediseases.org]