Hereditary spherocytosis presenting as indolent leg ulcers

Area of Science:

• Hematology
• Genetics
• Dermatology

Background:

• Hereditary spherocytosis (HS) is a genetic red blood cell disorder.
• Leg ulceration is an exceptionally rare manifestation of HS.
• Limited case reports exist globally, particularly from India.

Purpose of the Study:

• To report a rare case of hereditary spherocytosis presenting with indolent leg ulcers in a pediatric patient.
• To document the familial occurrence of this rare manifestation.
• To highlight the therapeutic response to oral folic acid.

Main Methods:

• Case report of a 15-year-old boy with a 10-year history of leg ulcers.
• Inclusion of his mother with a similar presentation.
• Review of existing literature on HS-associated leg ulcers.

Main Results:

• The patient presented with indolent leg ulceration since age 5.
• The condition was familial, affecting both the patient and his mother.
• Significant improvement was observed with oral folic acid supplementation.

Conclusions:

• Indolent leg ulcers can be a rare but presenting feature of hereditary spherocytosis, even in childhood.
• Familial cases underscore the genetic basis of this manifestation.
• Oral folic acid appears to be an effective treatment modality for these ulcers in HS patients.