Café-au-lait macule
CALM; café-au-lait spot; CAL spot; coffee-with-milk macule
Café-au-lait macules are common congenital or early-childhood-onset pigmented patches with a uniform tan to light brown colour ("coffee with milk"), occurring in approximately 10–30% of the general population. Individual CALMs are benign and require no treatment, but multiple CALMs are a major diagnostic criterion of neurofibromatosis type 1 (NF1) and a recognised feature of several other RASopathy syndromes. NF1 diagnostic criterion: ≥ 6 CALMs of ≥ 5 mm prepubertal or ≥ 15 mm postpubertal. Mosaic / segmental CALM may indicate a mosaic NF1 or McCune-Albright syndrome ("coast of Maine" border).
Clinical features
- Uniform tan to light-brown macule with well-defined border.
- Size variable — small (< 5 mm) to very large (> 20 cm in segmental disease).
- Onset typically birth or early childhood; new lesions may continue to appear in childhood.
- Site — anywhere on the body; trunk, limbs common.
- Number — 1–3 in the general population is common and benign; ≥ 6 of appropriate size is a major NF1 criterion.
- Two distinct border patterns:
- "Coast of California" — smooth border — typical of NF1 CALMs.
- "Coast of Maine" — irregular border — suggestive of McCune-Albright syndrome.
NF1 diagnostic criteria
- NF1 diagnosis requires two or more of:
- ≥ 6 café-au-lait macules measuring ≥ 5 mm (prepubertal) or ≥ 15 mm (postpubertal) in greatest diameter.
- Two or more neurofibromas of any type, OR one plexiform neurofibroma.
- Freckling in the axillary or inguinal regions (Crowe sign).
- Optic glioma.
- Two or more Lisch nodules (iris hamartomas).
- Distinctive osseous lesion — sphenoid dysplasia, long-bone cortical thinning, pseudarthrosis.
- First-degree relative with NF1 by these criteria.
- Modern criteria (2021 international consensus) — add NF1 pathogenic germline variant identification as a stand-alone diagnostic criterion.
- See neurofibromatosis 1 for comprehensive management.
Other syndromes
- McCune-Albright syndrome — coast-of-Maine CALMs + polyostotic fibrous dysplasia + endocrine hyperfunction (precocious puberty, hyperthyroidism).
- Legius syndrome — multiple CALMs + axillary / inguinal freckling without other NF1 features; SPRED1 mutation; lower cancer risk than NF1.
- Constitutional mismatch-repair deficiency (CMMRD) — biallelic Lynch mutations in childhood; CALMs + childhood cancers (brain, GI, haematological).
- RASopathies — Noonan, LEOPARD (Noonan with multiple lentigines), CFC, Costello — overlapping pigmentary features.
- Ataxia-telangiectasia — CALMs + ataxia + telangiectasia + immunodeficiency + cancer predisposition.
- Tuberous sclerosis — hypomelanotic macules predominantly, but CALMs may co-exist.
Management
- Reassurance for solitary or few CALMs in an otherwise well child.
- ≥ 6 CALMs of appropriate size — refer to clinical genetics for NF1 evaluation; eye examination for Lisch nodules; family history.
- Mosaic / segmental CALM or "coast of Maine" — consider McCune-Albright and segmental NF1; endocrine workup.
- Cosmetic treatment options — Q-switched ruby / alexandrite / Nd:YAG laser (variable response; possible recurrence after years); careful patient selection in Fitzpatrick IV–VI.
- NF1 surveillance — annual review including BP, scoliosis, ophthalmological, cutaneous, neurological; lifelong.
References
- Legius E et al. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genet Med; 2021.
- Stevenson DA et al. NF1 — clinical and diagnostic update. Pediatr Clin North Am; 2017.
Spot a correction?
If any clinical statement, citation or link on this page needs updating, please email admin@skinoncology.net with the page name, the proposed correction and the supporting source.