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Linear and whorled nevoid hypermelanosis in Infant/Neonate
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Linear and whorled nevoid hypermelanosis in Infant/Neonate

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Contributors: Craig N. Burkhart MD, Dean Morrell MD, Lowell A. Goldsmith MD, MPH, Nancy Esterly MD
Other Resources UpToDate PubMed

Synopsis

Linear and whorled nevoid hypermelanosis (LWNH) is a rare sporadic disorder in which multiple linear and swirled streaks of hyperpigmentation appear along lines of Blaschko without a preceding inflammatory stage. The hyperpigmentation typically becomes apparent soon after birth and remains stable, though it may progress for 1-2 years before stabilizing. Although originally described in 1988 in patients with only cutaneous findings, there have been several subsequent cases of LWNH with various systemic anomalies in the neurologic, cardiac, and musculoskeletal systems. The largest case series of patients with LWNH found a 30% incidence of extracutaneous abnormal features, primarily neurologic in nature.

Both the pigmentary and systemic findings are thought due to genetic mosaicism, with mutations in various genes leading to the variety of phenotypes observed. Mosaicism for c-KIT ligand (KITLG) in the hyperpigmented affected skin has been detected in one well-studied case.

For more information, see OMIM.

Codes

ICD10CM:
L81.8 – Other specified disorders of pigmentation

SNOMEDCT:
403803002 – Linear and whorled nevoid hypermelanosis

Look For

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • Incontinentia pigmenti (IP) – The third stage of IP shows hyperpigmented streaks in a Blaschko-like pattern, though typically there are preceding vesiculobullous and verrucous stages. IP is lethal in males due to an X-linked dominant inheritance. The mother should be examined.
  • Hypomelanosis of Ito (HI) – Typically presents at or soon after birth with hypopigmentation along lines of Blaschko, though there may concurrent hyperpigmentation. HI is also associated with extracutaneous anomalies.
  • Linear epidermal nevus
  • Albright syndrome

Best Tests

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Management Pearls

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Therapy

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References

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Last Updated: 09/21/2017
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Linear and whorled nevoid hypermelanosis in Infant/Neonate
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Linear and whorled nevoid hypermelanosis : Brown color, Hyperpigmented patch, Linear configuration, Primarily truncal, Whorled configuration
Clinical image of Linear and whorled nevoid hypermelanosis
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