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Coal-black hyperpigmentation at birth in a child with congenital adrenal hypoplasia

D Jones1, M Kay, W Craigen

  • 1Institute for Molecular Genetics, Baylor College of Medicine, USA.

Journal of the American Academy of Dermatology
|August 1, 1995
PubMed

Insights

Congenital adrenal hypoplasia, a rare birth condition, can cause profound hyperpigmentation in newborns. This case highlights a newborn presenting with severe skin darkening, preceding an adrenal crisis.

Area of Science:

  • Endocrinology
  • Pediatrics
  • Genetics

Background:

  • Congenital adrenal hypoplasia (CAH) affects approximately 1 in 12,500 births.
  • CAH is a group of genetic disorders affecting the adrenal glands.
  • Hyperpigmentation in CAH typically develops gradually over months to years.

Observation:

  • A newborn infant presented with profound, generalized hyperpigmentation at birth.
  • The infant's clinical presentation was unusual due to the severity and early onset of hyperpigmentation.
  • This observation prompted further investigation into potential underlying conditions.

Findings:

  • The infant was diagnosed with congenital adrenal hypoplasia.
  • The profound hyperpigmentation was an early indicator of the condition.
  • The infant subsequently developed an adrenal crisis, a life-threatening complication.

Implications:

  • Early and severe hyperpigmentation in newborns may indicate congenital adrenal hypoplasia.
  • Prompt diagnosis and management of CAH are crucial to prevent adrenal crisis.
  • This case underscores the importance of recognizing atypical presentations of endocrine disorders in neonates.

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