A 21-year-old woman comes to the office due to painful blisters on her palms that began after she started taking golf lessons. The patient frequently develops foot blisters during hiking or competitive sports but has never had symptoms on the hands. She has a remote history of failure to thrive during infancy due to frequent oral ulcers and poor feeding but is otherwise healthy. Vital signs are normal. Examination shows bullae and erosions on both palms. The skin of the soles is moderately thickened. Which of the following is the most likely diagnosis of this patient's skin condition?

Question

A 21-year-old woman comes to the office due to painful blisters on her palms that began after she started taking golf lessons.  The patient frequently develops foot blisters during hiking or competitive sports but has never had symptoms on the hands.  She has a remote history of failure to thrive during infancy due to frequent oral ulcers and poor feeding but is otherwise healthy.  Vital signs are normal.  Examination shows bullae and erosions on both palms.  The skin of the soles is moderately thickened.  Which of the following is the most likely diagnosis of this patient's skin condition?

Quizplus · Accepted Answer

Epidermolysis bullosa (EB) is a group of inherited disorders characterized by epithelial fragility (eg, bullae, erosions, ulcers) triggered by minor trauma. These conditions are caused by mutations of proteins involved in intraepidermal and dermoepidermal adhesion complexes in the basement membrane zone. bullae, erosions, ulcers There are four primary subtypes of EB (simplex, junctional, dystrophic, Kindler syndrome), with variable severity within subtypes. This patient most likely has EB simplex, the most common form, which is caused by mutations in keratin genes. EB simplex presents in children and young adults with friction-induced blisters at the palms and soles and other exposed areas. The lesions typically heal with no residual scarring, although patients may have chronic thickening of the skin of the feet. Infants with EB simplex may develop oral blisters with bottle-feeding, but mild cases often do not lead to definitive diagnostic testing. Suspected EB warrants biopsy of a fresh blister for immunofluorescence microscopy; genetic testing is available for confirmation. Treatment primarily involves careful wound care and supportive measures. (Choices A and D) Bullous pemphigoid causes tense bullous lesions involving the trunk and flexural areas of the extremities but not usually the palms and soles. Pemphigus vulgaris causes flaccid bullae involving the mucosa and skin that can rupture into painful erosions; however, it also does not typically involve the palms and soles. Both conditions are acquired disorders that mainly affect older adults; manifestations would not be seen in infancy. (Choice B) Dermatitis herpetiformis presents with small vesicles on the elbows, knees, and buttocks. It is typically seen in patients with gluten-sensitive enteropathy (ie, celiac disease) and is associated with intense itching. (Choice E) Porphyria cutanea tarda causes blisters and skin fragility, but mainly involves sun-exposed areas (eg, face, dorsum of the hands). The oral mucosa is not typically involved. Educational objective: Epidermolysis bullosa is a group of inherited disorders characterized by epithelial fragility (eg, bullae, erosions, ulcers) triggered by minor trauma. These conditions are caused by mutations of proteins involved in intraepidermal and dermoepidermal adhesion complexes in the basement membrane zone. Diagnosis is based on biopsy with immunofluorescence microscopy and genetic testing. Treatment is supportive.

A 21-Year-Old Woman Comes to the Office Due to Painful