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Case Reports
. 2017 Apr 8;5(6):774-777.
doi: 10.1002/ccr3.892. eCollection 2017 Jun.

Pallister-Killian syndrome in a two-year-old boy

Leigh Stone  1 , Ramya Tripuraneni  2 , Michelle Bain  1 , Claudia Hernandez  1
Affiliations
Case Reports

Pallister-Killian syndrome in a two-year-old boy

Leigh Stone et al. Clin Case Rep. .

Abstract

Pallister-Killian syndrome (PKS) is a rare, sporadic, multisystem developmental disorder characterized by craniofacial dysmorphic features. We report a case of a two-year-old boy with PKS to highlight the cutaneous findings and emphasize the importance of diagnostic skin biopsies in patients with cutaneous pigmentation changes and distinctive facial features.

Keywords: Developmental defects; Pallister–Killian syndrome; dyspigmentation.

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Figures

Figure 1
Figure 1
Blaschkoid hypo‐ and hyperpigmented streaks present on the trunk and upper extremity.
Figure 2
Figure 2
Low‐set ears, invasion of philtral skin onto the vermillion of the upper lip, and decreased scalp hair density.
See this image and copyright information in PMC

References

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