Cafe-Au-Lait Spots: Causes & Reasons

Possible Causes for Cafe-Au-Lait Spots

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]

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. [omicsonline.org]

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]

Clinical features include short stature, photosensitivity, cafe-au-lait spots, and an increased risk for cancer. [pixorize.com]

[…] shape of the face, such as a long face and a small lower jaw, as well as large ears and a prominent nose changes in skin colour – areas may be darker or lighter than normal cafe-au-lait [medic8.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]

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

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]

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]

lait spots,… [semanticscholar.org]

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]

McCune-Albright Syndrome

I know cafe au lait spots can be associated with other diseases aswell. [community.babycenter.com]

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

Your child’s doctor will conduct a complete physical examination to check for cafe-au-lait spots and other symptoms of McCune-Albright syndrome. [chop.edu]

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]

It is characterized by a typical phenotype which includes polyostotic fibrodysplasia, precocious puberty independent from gonadotropins, cafe-au-lait spots and a series of [bone-abstracts.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]

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]

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]

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

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

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]

LEOPARD Syndrome

au lait spots. [scholars.northwestern.edu]

Multiple lentigines syndrome should be considered in the differential diagnosis of multiple cafe au lait spots in children, particularly since the spots are usually present [ncbi.nlm.nih.gov]

Noonan syndrome with cafe-au-lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus. [scielo.br]

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]

Cell 126:297–308 PubMed CrossRef Google Scholar Korf BR (1992) Diagnostic outcome in children with multiple cafe au lait spots. [doi.org]

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]

However, when the child has only cafe au lait spots, we need to carefully examine the characteristics of the spots to find out if they are the spots typically found in NF1 [nfmidwest.org]

Familial Progressive Hyperpigmentation with or without 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]

Waardenburg Syndrome Type 2E

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]

[…] 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]

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]

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]

Ataxia-Telangiectasia Syndrome

[…] 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]

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

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

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 [banglajol.info]

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

Note the large cafe-au-lait spots withirregular edges. b,c: Radiographs of Patient 1. [fdocuments.in]

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]

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]