Cutaneous Cysts with Nail Dystrophy in a Young Female: A Classical Association

Area of Science:

• Dermatology
• Genetics
• Clinical Medicine

Background:

• Pachyonychia Congenita (PC) encompasses autosomal dominant disorders characterized by variable clinical features.
• Nail dystrophy and plantar keratoderma are hallmark symptoms, but other manifestations can occur.
• Cutaneous cysts are an uncommon, yet documented, feature in certain PC variants.

Purpose of the Study:

• To report a unique case of Pachyonychia Congenita type II presenting with asymptomatic cutaneous cysts.
• To correlate clinical findings with histopathological evaluation for diagnostic confirmation.
• To highlight the variability of PC manifestations and aid in early diagnosis.

Main Methods:

• Clinical case presentation of a young female and her son with characteristic symptoms.
• Histopathological examination of excised cutaneous cysts.
• Review of clinical and histopathological data to confirm the diagnosis of Pachyonychia Congenita type II.

Main Results:

• The patient exhibited multiple asymptomatic cutaneous cysts, plantar keratoderma, and nail dystrophy.
• Her son presented with similar nail changes, suggesting a hereditary pattern.
• Histopathology confirmed the cystic nature of the skin lesions, consistent with PC.

Conclusions:

• This case underscores the diverse clinical spectrum of Pachyonychia Congenita, including rare presentations like cutaneous cysts.
• The combination of clinical features and histopathology supports the diagnosis of Pachyonychia Congenita type II.
• Recognition of such varied presentations is crucial for accurate diagnosis and genetic counseling.