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695 Possible Causes for Cafe-Au-Lait Spots, High Peaks of Upper Lip Vermilion Border, Relative Macrocephaly in Childhood

  • Legius Syndrome

    Legius syndrome ( LS ) is an autosomal dominant condition characterized by cafe au lait spots. MD, Robert P. Erickson; PhD, Anthony J. Wynshaw-Boris MD (2016).[en.wikipedia.org] The number of café au lait macules increases with age in childhood, similar to what is observed in NF1 [Author, personal observation]. Macrocephaly.[ncbi.nlm.nih.gov] Mother's sister and grandfather have some cafe-au-lait spots.[ncbi.nlm.nih.gov]

  • Noonan Syndrome

    In addition, LEOPARD syndrome is confused with Neurofibromatosis Type 1 due to the presence of cafe-au-lait spots.[care.com] Abnormalities of pigmentation in Noonan syndrome include multiple pigmented nevi, cafe-au-lait spots, as well as lentigines.[news-medical.net] Cafe-au-lait spots, pigmented naevi and lentigines are more frequent than in the general population.[patient.info]

    Missing: Relative Macrocephaly in Childhood
  • Neurofibromatosis Type 1

    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 number of café au lait macules increases with age in childhood, similar to what is observed in NF1 [Author, personal observation]. Macrocephaly.[web.archive.org] Additionally, NF1-like cafe-au-lait spots have been described in biallelic mismatch repair deficiency, another condition featuring gastrointestinal polyps.[ncbi.nlm.nih.gov]

    Missing: High Peaks of Upper Lip Vermilion Border
  • 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 number of café au lait macules increases with age in childhood, similar to what is observed in NF1 [Author, personal observation]. Macrocephaly.[web.archive.org] NF1 is characterized by “cafe-au-lait spots” (light brown skin patches) as well as neurofibromas (benign skin tumors).[weillcornellbrainandspine.org]

    Missing: High Peaks of Upper Lip Vermilion Border
  • 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]

    Missing: High Peaks of Upper Lip Vermilion Border Relative Macrocephaly in Childhood
  • 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] […] 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] spots.[radiopaedia.org]

    Missing: High Peaks of Upper Lip Vermilion Border Relative Macrocephaly in Childhood
  • 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]

    Missing: High Peaks of Upper Lip Vermilion Border Relative Macrocephaly in Childhood
  • Pheochromocytoma

    The subject should be examined for cafe au lait spots if neurofibromatosis is suspected.[clinicalpainadvisor.com] Neurofibromatosis type 1 involves neurofibromas and cafe-au-lait spots. The genetic mutation is found on chromosome 17q11.2.[clinicalpainadvisor.com]

    Missing: High Peaks of Upper Lip Vermilion Border Relative Macrocephaly in Childhood
  • McCune-Albright Syndrome

    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] Paris-Sud, Inserm U693, 78, rue du Général-Leclerc, 94275 Le Kremlin-Bicêtre, France. philippe.chanson@bct.aphp.fr Abstract The McCune-Albright syndrome is characterized by cafe-au-lait[ncbi.nlm.nih.gov] People with neurofibromatosis often have more than 6 light brown spots -- cafe-au-lait spots -- larger than 1.5 centimeters.[mountsinai.org]

    Missing: High Peaks of Upper Lip Vermilion Border Relative Macrocephaly in Childhood
  • 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]

    Missing: High Peaks of Upper Lip Vermilion Border Relative Macrocephaly in Childhood

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