Expert Shares Challenging Cases From Stanford

CORONADO, CALIF. — Making the correct diagnosis and choosing the best therapy are standard goals of dermatology practice, but sometimes that's easier said than done.

At the annual meeting of the Pacific Dermatologic Association, Dr. Anna L. Bruckner discussed three cases to illustrate that point.

In the first case, a 6-year-old girl with suspected loose anagen syndrome was referred to Dr. Bruckner, who is director of pediatric dermatology at Lucile Packard Children's Hospital in Palo Alto, Calif. In this condition, the anagen hairs are loosely anchored into the scalp so that the hair will fall out with very minor trauma. The hair is short, sparse, and seldom cut. It typically is seen in blond girls aged 2–5 years, but can affect boys and brunettes as well.

Many of the girl's friends at school "had long, flowing hair and she wanted to see if there was something we could do about her hair," Dr. Bruckner said. She did a gentle hair pull test and only two hairs came out. The girl's hair was very short and had a matted appearance in the back.

Dr. Bruckner prescribed 5% minoxidil lotion and scheduled a 3-month follow-up visit. On follow-up the girl's hair was fuller but it remained short and gentle hair pull tests remained negative.

"We obtained some additional history," Dr. Bruckner recalled. "Her nails were thin, often peeled, and never required trimming. She had no history of dental anomalies, and she'd had a coarse, deep voice since age 2. Her mother said that she looked different from her siblings."

She also had sparse lateral eyebrows, a pear-shaped nose, and a thin upper lip.

The combination of short, sparse hair and abnormal facial features led Dr. Bruckner to consider trichorhinophalangeal syndrome (TRPS) type 1 as the diagnosis. An x-ray of the girl's hand performed after her follow-up visit revealed cone-shaped epiphyses of the phalanges, which confirmed the diagnosis. TRPS type 1 is an autosomal dominant disorder characterized by craniofacial and bony abnormalities that include sparse, slow-growing hair and thin lateral eyebrows, a pear-shaped nose, elongated philtrum and thin upper lip, prominent ears, and cone-shaped epiphyses of the phalanges.

Variable findings include short stature (the patient was in the 25th percentile for height), nail abnormalities, teeth abnormalities, and a deep voice. The condition is caused by mutations in the TRPS1 gene.

Although there is no specific treatment for TRPS type 1, the parents were happy to better understand why their daughter's hair failed to grow normally. She has continued to use 5% minoxidil for 6 months with some improvement.

In another challenging case, a 16-year-old African American boy presented with a 1-year history of a rapidly enlarging, pink to brown, scaly plaque on the right lower extremity. The lesion extended onto the thigh, shin, and toes.

He had been seen by other dermatologists, and previous diagnoses included epidermal nevus and linear psoriasis. Topical treatment with clobetasol, calcipotriene, and tazarotene led to minimal improvement, but the patient was concerned that he was developing significant postinflammatory hyperpigmentation.

Close examination of the skin change revealed a thread-like hyperkeratotic border. Biopsy of this area showed a cornoid lamella, which is seen in porokeratosis.

Ultimately, Dr. Bruckner diagnosed linear porokeratosis, which presents in infancy or childhood. The lesions follow the line of Blaschko.

"The presumed pathogenesis is dysregulation of the keratinocytes, which leads to premature apoptosis of keratinocytes," said Dr. Bruckner, also assistant professor of dermatology and pediatrics at Stanford (Calif.) University. "The clinical concerns are for cosmesis and the potential for developing squamous cell carcinoma within the lesion."

Treatments include the use of topical retinoids, imiquimod, and fluorouracil. Destructive therapies include cryotherapy, electrodesiccation, laser ablation, and excision. "However, in many of these cases recurrence of the lesion is common and all of these treatments have potential adverse effects," she noted. "This raises the question: Is treatment necessary?"

After the diagnosis was made they tried a course of imiquimod. "The boy did not feel that there was any improvement, and he developed significant postinflammatory hyperpigmentation," she said.

In this case, Dr. Bruckner and her associates ultimately decided that the best therapy was no therapy, but they continue to monitor the lesion for worrisome changes.

This decision "was controversial, but it was a decision that was made with the family," she said. "It's something that they're comfortable with at this point."

The third case Dr. Bruckner discussed was that of a 9-year-old girl who was referred by a rheumatologist for evaluation of possible dermatomyositis. The patient had a 4-month history of intermittent redness and swelling of the hands that worsened after prolonged outdoor activities.