Pseudoxanthoma elasticum with periumbilical perforation in a nullipara

Area of Science:

• Medical Genetics
• Dermatology
• Inherited Disorders

Background:

• Pseudoxanthoma elasticum (PXE) is an inherited disorder affecting elastic fibers, primarily impacting the skin.
• PXE is caused by mutations in the ATP-binding cassette transporter C6 (ABCC6) or multidrug resistance-associated protein 6 (MRP6) genes.
• Perforating PXE is a rare variant, typically observed in the periumbilical region of obese, multiparous women, with distinct clinical and histopathological features.

Purpose of the Study:

• To report an atypical case of perforating Pseudoxanthoma elasticum.
• To highlight a rare presentation of PXE in a nulliparous woman.
• To describe a case lacking systemic involvement.

Main Methods:

• Case report detailing clinical presentation.
• Histopathological examination of skin lesions.
• Review of relevant literature on Pseudoxanthoma elasticum variants.

Main Results:

• An unusual case of perforating PXE was identified in a nulliparous woman.
• The patient presented with periumbilical lesions characteristic of perforating PXE.
• No systemic manifestations of PXE were observed in this patient.

Conclusions:

• Perforating PXE can occur in nulliparous women, challenging typical demographic associations.
• This case underscores the variability in PXE presentation, even in its perforating form.
• Further research may elucidate genetic or environmental factors influencing PXE phenotype variability.