Overview

Definition:
-Dermatitis herpetiformis (DH) is a chronic, intensely pruritic, papulovesicular skin eruption that is strongly associated with celiac disease
-it is considered the cutaneous manifestation of celiac disease in most individuals.
Epidemiology:
-DH affects approximately 1 in 10,000 individuals
-It typically presents in young adults and adolescents, with a slight female predominance
-In pediatrics, it is less common but can occur, often presenting later in childhood or adolescence
-A significant majority (up to 90%) of individuals with DH have histologically confirmed celiac disease, even in the absence of overt gastrointestinal symptoms.
Clinical Significance:
-Recognizing DH in children is crucial as it signals underlying celiac disease, a condition that can lead to significant nutritional deficiencies, impaired growth, and long-term complications if left untreated
-Early diagnosis and management are vital for improving patient quality of life and preventing sequelae.

Clinical Presentation

Symptoms:
-Intense itching (pruritus) that is often burning and excoriating
-Symmetrical distribution of lesions, typically on elbows, knees, buttocks, and sacrum
-Small vesicles, papules, and excoriations, often appearing as urticarial plaques
-Absence of gastrointestinal symptoms in a significant proportion of pediatric patients.
Signs:
-Characteristic lesions include grouped papules and vesicles
-Excoriations are prominent due to intense itching
-Lesions are often symmetrically distributed on extensor surfaces (elbows, knees, buttocks, sacrum)
-Mucous membranes are usually spared
-Vital signs are typically normal unless secondary infection from scratching occurs.
Diagnostic Criteria:
-Clinical suspicion based on the characteristic rash distribution and intense pruritus
-Skin biopsy showing characteristic granular IgA deposits in the dermal papillae on direct immunofluorescence microscopy is the gold standard
-Detection of IgA anti-tissue transglutaminase (anti-tTG) antibodies and IgA anti-endomysial (anti-EMA) antibodies in serum confirms the diagnosis of celiac disease
-Histopathology of a small intestinal biopsy may reveal villous atrophy, crypt hyperplasia, and increased intraepithelial lymphocytes, confirming celiac disease.

Diagnostic Approach

History Taking:
-Detailed history of the onset, duration, and evolution of the skin rash
-Severity and pattern of pruritus
-Any associated gastrointestinal symptoms (diarrhea, constipation, abdominal pain, bloating, poor weight gain)
-Family history of celiac disease or autoimmune disorders
-Dietary history, including gluten intake
-Medication history.
Physical Examination:
-Thorough skin examination to assess the morphology, distribution, and symmetry of lesions
-Note excoriations, papules, vesicles, and urticarial plaques
-Examine extensor surfaces of elbows and knees, buttocks, and sacrum
-Check for signs of malnutrition or growth delay
-Evaluate for other signs of autoimmune disease.
Investigations:
-Skin biopsy for direct immunofluorescence (DIF) microscopy: demonstrates granular IgA deposits in the dermal papillae
-Serological tests for celiac disease: IgA anti-tissue transglutaminase (anti-tTG) antibodies and IgA anti-endomysial (anti-EMA) antibodies
-note that IgA deficiency can lead to false-negative results, so total IgA levels should also be checked
-Total IgA levels: to rule out selective IgA deficiency
-Small intestinal biopsy: recommended to confirm celiac disease, especially if serological tests are equivocal or if there are gastrointestinal symptoms
-typical findings include villous atrophy, crypt hyperplasia, and increased intraepithelial lymphocytes.
Differential Diagnosis:
-Other forms of pruritic dermatoses: eczema, scabies, urticaria, allergic contact dermatitis
-Other blistering disorders: bullous pemphigoid (more common in older adults), epidermolysis bullosa
-Pityriasis rosea
-Insect bites.

Management

Initial Management:
-Strict adherence to a lifelong gluten-free diet (GFD) is the cornerstone of treatment for both DH and celiac disease
-Symptomatic relief of pruritus.
Medical Management:
-Gluten-free diet: This is the primary treatment
-Symptoms of DH typically improve within weeks to months of strict adherence
-Medications for pruritus: Dapsone (diaminodiphenyl sulfone) is highly effective for symptomatic relief while the GFD takes effect
-Pediatric Dapsone dosage: typically 0.5-1 mg/kg/day divided into 1-2 doses
-Monitor for side effects of dapsone, including hemolytic anemia, methemoglobinemia, and peripheral neuropathy
-Sulfasalazine may be an alternative if dapsone is contraindicated or not tolerated
-Topical corticosteroids: can be used for localized, severe itching, but systemic treatment is usually required.
Surgical Management: Not applicable for DH or celiac disease.
Supportive Care:
-Nutritional assessment and supplementation if deficiencies are identified due to malabsorption
-Education on the importance of a lifelong gluten-free diet
-Support groups for patients and families
-Regular follow-up to monitor adherence to the GFD and assess for complications.

Complications

Early Complications:
-Intractable pruritus and excoriations leading to secondary bacterial infections
-Anemia (iron deficiency, folate deficiency, B12 deficiency) due to malabsorption
-Neutropenia or hemolytic anemia due to dapsone therapy.
Late Complications:
-Osteoporosis or osteopenia due to calcium and vitamin D malabsorption
-Increased risk of other autoimmune diseases (e.g., type 1 diabetes, autoimmune thyroiditis)
-Increased risk of certain malignancies, particularly intestinal lymphomas (e.g., T-cell lymphoma), though the risk is significantly reduced with strict GFD adherence
-Growth failure in children if celiac disease is diagnosed late.
Prevention Strategies:
-Strict, lifelong adherence to a gluten-free diet is paramount
-Regular monitoring for nutritional deficiencies and bone health
-Patient and family education on celiac disease and DH management
-Early diagnosis and treatment of celiac disease in at-risk individuals.

Prognosis

Factors Affecting Prognosis:
-Adherence to the gluten-free diet is the most significant factor
-Early diagnosis and prompt initiation of treatment
-Presence and severity of associated autoimmune conditions
-Degree of intestinal villous atrophy at diagnosis.
Outcomes:
-With strict adherence to a gluten-free diet, the skin lesions of DH typically resolve completely within 1-2 years
-Gastrointestinal symptoms improve, and nutritional status normalizes
-Long-term prognosis is generally good, with a significant reduction in the risk of complications
-Recurrence of DH can occur with accidental gluten ingestion.
Follow Up:
-Regular follow-up appointments with a pediatrician, gastroenterologist, and dermatologist are recommended
-Monitor for adherence to the GFD
-Annual serological screening for celiac disease antibodies is advised
-Periodic assessment of nutritional status, bone mineral density, and growth parameters
-Education on recognizing symptoms of gluten exposure and managing accidental ingestions.

Key Points

Exam Focus:
-DH is the cutaneous manifestation of celiac disease
-treat with a strict gluten-free diet
-Dapsone provides rapid symptomatic relief but is not a substitute for the GFD
-Direct immunofluorescence showing granular IgA deposits is diagnostic for DH
-Celiac serology (anti-tTG, anti-EMA) is crucial
-Consider IgA deficiency.
Clinical Pearls:
-The itch in DH is often described as unbearable
-Look for lesions on elbows, knees, buttocks, and sacrum
-Always consider celiac disease in a child with this rash pattern, even without GI symptoms
-Skin biopsy for DIF is the gold standard for DH diagnosis, while intestinal biopsy confirms celiac disease histology
-Educate families thoroughly on the strictness of the GFD.
Common Mistakes:
-Treating DH with dapsone indefinitely without emphasizing the gluten-free diet
-Failing to perform direct immunofluorescence on a skin biopsy
-Not screening for celiac disease serologically in patients with DH
-Prescribing dapsone without monitoring for hematologic side effects
-Attributing the rash solely to scratching without considering an underlying condition.