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Stony Hard Skin During Early Infancy
Julien Bachour1, Fatmeh Ghandour, Alfred Ammoury
1Saint George Hospital University Medical Center, University of Balamand, Beirut, Lebanon.
The American Journal of Dermatopathology
|March 6, 2018
Insights
Stiff skin syndrome, a rare childhood disease, causes stony hard skin. This case highlights adipocyte entrapment as a potentially key, unrecognized diagnostic finding.
Area of Science:
- Dermatology
- Pathology
- Rare Diseases
Background:
- Stiff skin syndrome (SSS) is a rare genetic disorder characterized by woody, indurated skin.
- Typically presenting in early childhood, SSS poses diagnostic challenges due to its rarity.
Observation:
- A 12-year-old boy presented with clinical features suggestive of stiff skin syndrome.
- Skin biopsy was performed to investigate the underlying pathology.
Findings:
- Histopathological examination of the biopsy revealed significant adipocyte entrapment within the dermal collagen.
- Adipocyte entrapment is proposed as a novel and critical diagnostic marker for stiff skin syndrome.
Implications:
- Identifying adipocyte entrapment could improve the diagnostic accuracy and speed for stiff skin syndrome.
- This finding may open new avenues for understanding the pathophysiology of SSS.
- Further research is warranted to validate adipocyte entrapment as a consistent pathological feature of SSS.
Abstract:
Stiff skin syndrome is a rare disease causing stony hard induration of skin usually in early childhood. We report a case of 12 years old boy who presented to our clinic with biopsy showing adipocyte entrapment which we believe is an unrecognized key pathological finding in diagnosis of this entity.
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