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Acrokeratoelastoidosis and knuckle pads coexisting in a child
Carl Barrick1, Joshua Moran2, Christian Oram3
1Lehigh Valley Health Network, Allentown, Pennsylvania, USA.
Cutis
|December 20, 2018
Summary
Acrokeratoelastoidosis (AKE), a rare skin condition, typically appears in youth. This case highlights a unique presentation with knuckle pads, suggesting a possible coexistence with AKE.
Area of Science:
- Dermatology
- Genetics
Background:
- Acrokeratoelastoidosis (AKE) is a rare marginal papular keratoderma.
- It typically presents in childhood and young adulthood with autosomal-dominant inheritance patterns observed in childhood cases.
Observation:
- A case study of an 11-year-old boy with characteristic AKE features is presented.
- The patient exhibited multiple translucent, hyperkeratotic papules arranged linearly on the palms and soles.
- Notably, the patient also presented with knuckle pads on the proximal and distal interphalangeal joints.
Findings:
- The observed case aligns with the distinct dermal elastorrhexis and epithelial dell characteristic of AKE.
- The co-occurrence of knuckle pads, rarely reported with AKE, was a significant finding.
Implications:
- This report expands the clinical spectrum of Acrokeratoelastoidosis.
- It suggests that AKE and atraumatic knuckle pads may coexist, warranting further investigation into potential sharedPathways or genetic links.
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