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Table 1 Syndromes associated with café-au-lait macules

From: Diagnostic and pathogenetic role of café-au-lait macules in nevoid basal cell carcinoma syndrome

Syndrome Gene or Locus Cutaneous Clinical Features Systemic Clinical Features
NF1 NF1 Multiple café-au-lait (>6), skin-fold freckling, cutaneous and plexiform neurofbromas Macrocephaly, optic pathway glioma, skeletal dysplasia
NF2 NF2 Café-au-lait macules seen but not a criterion for diagnosis, neurofibromas Acoustic neuromas, schwannomas, meningiomas, juvenile posterior subcapsular lenticular opacity
Multiple familial Café-au-lait Unknown Multiple café-au-lait Without other stigmata of NF1
Legius (NF-1 like) syndrome SPREAD1 Multiple café-au-lait, skin-fold freckling Without other stigmata of NF1
McCune Albright syndrome GNAS1 Segmental café-au-lait Precocious puberty, other endocrinopathies, polyostotic fibrous dysplasia
Constitutional MMR deficiency syndrome MLH1, MSH2, MSH6, PMS2 Multiple café-au-lait Adenomatous colonic polyps, multiple malignancies (medulloblastoma, lymphoma, glioblastoma)
Ring chromosome syndrome Choromosomes 7,11,12,15,17 Multiple café-au-lait Microcephaly, mental retardation, short stature
Leopard/multiple lentigenes syndrome PTPN11 Café-au-lait, café-noir, lentigines Cardiac conduction defects, ocular hypertelorism, pulmonary stenosis, growth retardation, hearing loss
Cowden syndrome PTEN Café-au-lait spots, Facial trichilemmomas, soft tissue tumors (lipomas, neuromas) Cobblestoning of the oral mucosa, gastrointestinal polyps, breast carcinoma, thyroid adenoma and cancer
Banayan-Riley- Ruvalcaba syndrome PTEN Pigmented genital macules, Facial trichilemmomas Oral papillomas, gastrointestinal polyps, Macrocephaly, vascular anomalies
NAME (naevi, atrial mixoma, ephelides) syndrome Unknown Naevi, ephelides Atrial mixoma
Ataxia teleangectasia ATM Cutaneous and ocular teleangectasias Cerebellar ataxia, immunodeficiency, hypogonadism, lymphoreticular malignancy
Epidermal Nevus syndrome Unknown Linear epidermal nevus Mental retardation, seizures, movement disorders
Turner Syndrome X-chromosomal anomalies (XO karyotupe or Xp deletion) Cutaneous lymphatic malformations Short stature, broad chest, low hairline, low-set ears and webbed necks, swelling, gonadal dysfunction, congenital heart disease, hypothyroidism.
Silver-Russel Syndrome Unknown Multiple café au lait macules Short stature, craniofacial and body asymmetry, microcephaly, congenital cardiac defects
Fanconi Anemia FANCA, FANCB/C/D locus on chromosome 3, FANCE/F/G/H Hyper- and hypopigmentation of the skin, mucocutaneous squamous cell carcinomas Bone marrow failure, multiple congenital anomalies, mental retatrdation, microcephaly
Westerhof Syndrome unknown Hypopigmented and hyperpigmented macules Retarded growth and mental deficiency
MEN1/Men2B RET Multiple malignancies  
Bloom syndrome RECQL3 Hypo- and hyper-pigmented spots; telangiectasias Mental retardation, short stature
Gaucher Disease Chromosome 1 Yellowish-brown skin pigmentation Astenia, diarrhoea, ataxia, splenomegalia, hemorrhagies, muscolar atrophia,
Hunter Disease X-linked Skin eruptions Macrocephaly, mental retardation, valvular dysfunction
Watson Syndrome NF1 Axillary/inguinal freckling Mental retardation, short stature, pulmonary valvular stenosis, Lisch nodules