Q81: Epidermolysis bullosa

Q81 refers to Epidermolysis bullosa, encompassing congenital conditions that affect the skin, breast development, integumentary system, or involve multiple organ systems present from birth.

Symptoms

• Severe skin dryness and scaling – Hallmark of congenital ichthyosis (Q80)
• Fragile skin prone to blistering – Seen in epidermolysis bullosa (Q81)
• Breast asymmetry or absence – Congenital malformations of breast (Q83)
• Skin lesions and vascular anomalies – Associated with phakomatoses (Q85)
• Multiple birth defects – Seen in congenital syndromes (Q86–Q87)

Diagnosis

Diagnosis involves clinical evaluation, genetic testing, skin biopsy (for disorders like epidermolysis bullosa), imaging studies, and sometimes prenatal screening for congenital syndromes affecting multiple systems.

ICD10 Code Usage

ICD10 code Q81 is essential for accurate recording in EHRs, genetic counseling documentation, insurance coding, management of congenital skin and system-wide malformations, and research registries.

Related Codes

• Q80 – Congenital ichthyosis
• Q82 – Other congenital malformations of skin
• Q83 – Congenital malformations of breast
• Q84 – Other congenital malformations of integument
• Q85 – Phakomatoses, not elsewhere classified
• Q86 – Congenital malformation syndromes due to known exogenous causes, not elsewhere classified
• Q87 – Other specified congenital malformation syndromes affecting multiple systems
• Q89 – Other congenital malformations, not elsewhere classified

FAQs

Q1: What is ICD10 code Q81?
A: It documents Epidermolysis bullosa, congenital malformations involving the skin, breast, or broader syndromic conditions.

Q2: Can ichthyosis be treated?
A: While it cannot be cured, skin hydration treatments, keratolytics, and specialized skincare help manage it.

Q3: What are phakomatoses?
A: A group of genetic disorders that often affect the skin, nervous system, and eyes (e.g., neurofibromatosis).

Q4: Are congenital breast anomalies serious?
A: They may affect appearance or function but usually do not impact overall health unless associated with broader syndromes.

Q5: What causes congenital syndromes due to exogenous factors?
A: Environmental exposures during pregnancy such as infections (e.g., rubella) or toxins can lead to syndromes (Q86).

Conclusion

ICD10 code Q81 ensures accurate documentation of Epidermolysis bullosa, facilitating early intervention, specialized care, and long-term management of congenital conditions affecting skin, breast, or multiple systems.