Hailey-Hailey Disease Goes Undiagnosed for Years

SCOTTSDALE, ARIZ. — An accurate diagnosis of Hailey-Hailey disease was delayed an average of 8 years after onset of the painful disorder, while dermatologists and nondermatologists treated what they presumed to be dermatitis, psoriasis, or a rash, according to a 40-year retrospective study.

“In three patients, believe it or not, the disease actually preceded the diagnosis by more than 30 years,” Dr. Kenneth J. Tomecki, vice chair of dermatology at the Cleveland Clinic, said at the annual meeting of the Noah Worcester Dermatological Society.

Often remembered for the “dilapidated brick wall” appearance of its histology, Hailey-Hailey disease is a rare but important genetic dermatosis, he said.

Intrigued by the disorder since residency, Dr. Tomecki decided to conduct a review of every histologically confirmed case seen at the Cleveland Clinic from 1965 to 2005.

The 28 cases that emerged showed a female predominance (20:8) and an average age of onset of 35 years, although one patient recalled an onset of disease at 10 years old.

In 20 cases, patients reported a family history of the disease. One patient “recalled, in tree fashion,” 10 family members who also had confirmed Hailey-Hailey disease or its signs and symptoms.

Characteristic moist, macerated plaques were present in the patients.

The disease had caused cutaneous symptoms in 24 patients, who described burning, pain, and tenderness exacerbated by friction, heat and humidity, sunlight, and even massage.

The axillae, groin, and perineum were the most common sites of involvement, followed by the neck, inframammary region, and vulva.

In 25 of the 28 patients, more than one area of the body was involved.

The diagnosis is established by the histology, which Dr. Tomecki described as “suprabasilar bullae with acantholysis against a background clinical appearance of moist, macerated plaques.”

All of the patients in Dr. Tomecki's review had received topical therapies: corticosteroids, antifungals, and emollients.

Systemic corticosteroids resulted in improvement in 8 of 12 patients who received them. Tetracycline, likely used for its anti-inflammatory actions, was effective in half of the eight patients to whom it was prescribed. Dapsone, which Dr. Tomecki believed might prove efficacious, only improved 6 of the 10 patients in which it was tried.

“Interestingly enough, in the hands of the surgeons, CO2 laser vaporization actually had a good result in all eight of the patients who underwent this therapy,” he said.

A literature search revealed a similar potpourri of treatments, with similarly uneven results, reported Dr. Tomecki.

He characterized systemic therapies, including oral antibiotics, dapsone, and systemic corticosteroids as “unpredictable, and really not something to lean on.”

First described by dermatologist brothers William Howard Hailey and Hugh Edward Hailey in 1939, Hailey-Hailey disease is a rare autosomal dominant disorder caused by a mutation in chromosome 3q.

“The key abnormality is that the adhesion between epidermal cells is shot,” explained Dr. Tomecki. “They no longer have the glue to hold them together.”

The adhesion between keratinocytes then deteriorates, affecting the desmosomal/keratin filament complex and triggering acantholysis and clinical vesicular changes, blisters, and plaques.

Beyond the discomfort, most patients also suffer from malodorous secondary effects of the lesions, with social and psychological consequences. Despite these challenges, the long-term outlook for most patients is very good, he said.

'In three patients, believe it or not, the disease actually preceded the diagnosis by more than 30 years.' DR. TOMECKI

Adhesion between epidermal cells is shot, causing moist, macerated plaques. Courtesy Dr. Kenneth J. Tomecki

SCOTTSDALE, ARIZ. — An accurate diagnosis of Hailey-Hailey disease was delayed an average of 8 years after onset of the painful disorder, while dermatologists and nondermatologists treated what they presumed to be dermatitis, psoriasis, or a rash, according to a 40-year retrospective study.

“In three patients, believe it or not, the disease actually preceded the diagnosis by more than 30 years,” Dr. Kenneth J. Tomecki, vice chair of dermatology at the Cleveland Clinic, said at the annual meeting of the Noah Worcester Dermatological Society.

Often remembered for the “dilapidated brick wall” appearance of its histology, Hailey-Hailey disease is a rare but important genetic dermatosis, he said.

Intrigued by the disorder since residency, Dr. Tomecki decided to conduct a review of every histologically confirmed case seen at the Cleveland Clinic from 1965 to 2005.

The 28 cases that emerged showed a female predominance (20:8) and an average age of onset of 35 years, although one patient recalled an onset of disease at 10 years old.

In 20 cases, patients reported a family history of the disease. One patient “recalled, in tree fashion,” 10 family members who also had confirmed Hailey-Hailey disease or its signs and symptoms.

Characteristic moist, macerated plaques were present in the patients.

The disease had caused cutaneous symptoms in 24 patients, who described burning, pain, and tenderness exacerbated by friction, heat and humidity, sunlight, and even massage.

The axillae, groin, and perineum were the most common sites of involvement, followed by the neck, inframammary region, and vulva.

In 25 of the 28 patients, more than one area of the body was involved.

The diagnosis is established by the histology, which Dr. Tomecki described as “suprabasilar bullae with acantholysis against a background clinical appearance of moist, macerated plaques.”

All of the patients in Dr. Tomecki's review had received topical therapies: corticosteroids, antifungals, and emollients.

Systemic corticosteroids resulted in improvement in 8 of 12 patients who received them. Tetracycline, likely used for its anti-inflammatory actions, was effective in half of the eight patients to whom it was prescribed. Dapsone, which Dr. Tomecki believed might prove efficacious, only improved 6 of the 10 patients in which it was tried.

“Interestingly enough, in the hands of the surgeons, CO2 laser vaporization actually had a good result in all eight of the patients who underwent this therapy,” he said.

A literature search revealed a similar potpourri of treatments, with similarly uneven results, reported Dr. Tomecki.

He characterized systemic therapies, including oral antibiotics, dapsone, and systemic corticosteroids as “unpredictable, and really not something to lean on.”

First described by dermatologist brothers William Howard Hailey and Hugh Edward Hailey in 1939, Hailey-Hailey disease is a rare autosomal dominant disorder caused by a mutation in chromosome 3q.

“The key abnormality is that the adhesion between epidermal cells is shot,” explained Dr. Tomecki. “They no longer have the glue to hold them together.”

The adhesion between keratinocytes then deteriorates, affecting the desmosomal/keratin filament complex and triggering acantholysis and clinical vesicular changes, blisters, and plaques.

Beyond the discomfort, most patients also suffer from malodorous secondary effects of the lesions, with social and psychological consequences. Despite these challenges, the long-term outlook for most patients is very good, he said.

'In three patients, believe it or not, the disease actually preceded the diagnosis by more than 30 years.' DR. TOMECKI

Adhesion between epidermal cells is shot, causing moist, macerated plaques. Courtesy Dr. Kenneth J. Tomecki

SCOTTSDALE, ARIZ. — An accurate diagnosis of Hailey-Hailey disease was delayed an average of 8 years after onset of the painful disorder, while dermatologists and nondermatologists treated what they presumed to be dermatitis, psoriasis, or a rash, according to a 40-year retrospective study.

“In three patients, believe it or not, the disease actually preceded the diagnosis by more than 30 years,” Dr. Kenneth J. Tomecki, vice chair of dermatology at the Cleveland Clinic, said at the annual meeting of the Noah Worcester Dermatological Society.

Often remembered for the “dilapidated brick wall” appearance of its histology, Hailey-Hailey disease is a rare but important genetic dermatosis, he said.

Intrigued by the disorder since residency, Dr. Tomecki decided to conduct a review of every histologically confirmed case seen at the Cleveland Clinic from 1965 to 2005.

The 28 cases that emerged showed a female predominance (20:8) and an average age of onset of 35 years, although one patient recalled an onset of disease at 10 years old.

In 20 cases, patients reported a family history of the disease. One patient “recalled, in tree fashion,” 10 family members who also had confirmed Hailey-Hailey disease or its signs and symptoms.

Characteristic moist, macerated plaques were present in the patients.

The disease had caused cutaneous symptoms in 24 patients, who described burning, pain, and tenderness exacerbated by friction, heat and humidity, sunlight, and even massage.

The axillae, groin, and perineum were the most common sites of involvement, followed by the neck, inframammary region, and vulva.

In 25 of the 28 patients, more than one area of the body was involved.

The diagnosis is established by the histology, which Dr. Tomecki described as “suprabasilar bullae with acantholysis against a background clinical appearance of moist, macerated plaques.”

All of the patients in Dr. Tomecki's review had received topical therapies: corticosteroids, antifungals, and emollients.

Systemic corticosteroids resulted in improvement in 8 of 12 patients who received them. Tetracycline, likely used for its anti-inflammatory actions, was effective in half of the eight patients to whom it was prescribed. Dapsone, which Dr. Tomecki believed might prove efficacious, only improved 6 of the 10 patients in which it was tried.

“Interestingly enough, in the hands of the surgeons, CO2 laser vaporization actually had a good result in all eight of the patients who underwent this therapy,” he said.

A literature search revealed a similar potpourri of treatments, with similarly uneven results, reported Dr. Tomecki.

He characterized systemic therapies, including oral antibiotics, dapsone, and systemic corticosteroids as “unpredictable, and really not something to lean on.”

First described by dermatologist brothers William Howard Hailey and Hugh Edward Hailey in 1939, Hailey-Hailey disease is a rare autosomal dominant disorder caused by a mutation in chromosome 3q.

“The key abnormality is that the adhesion between epidermal cells is shot,” explained Dr. Tomecki. “They no longer have the glue to hold them together.”

The adhesion between keratinocytes then deteriorates, affecting the desmosomal/keratin filament complex and triggering acantholysis and clinical vesicular changes, blisters, and plaques.

Beyond the discomfort, most patients also suffer from malodorous secondary effects of the lesions, with social and psychological consequences. Despite these challenges, the long-term outlook for most patients is very good, he said.

'In three patients, believe it or not, the disease actually preceded the diagnosis by more than 30 years.' DR. TOMECKI

Adhesion between epidermal cells is shot, causing moist, macerated plaques. Courtesy Dr. Kenneth J. Tomecki