The progression to systemic lupus in this patient is a “fascinating example of the spectrum of clinical presentation and chronicity in systemic lupus erythematosus,” Dr. Sheilagh Maguiness said at a meeting of the Society for Pediatric Dermatology.
Although neither the boy nor his mother reported his history of disease at birth or infancy—and in fact initially denied any such history or related family history—a chance consultation with Dr. Ilona Frieden of the University of California, San Francisco, who was familiar with the patient and had reported on the case in 1998, shed light on his condition.
He was born to a 22-year-old mother at 35 weeks' gestation with a widespread rash consisting of reticulate atrophic plaques, hyperpigmentation, desquamation, and alopecia.
Hematologic abnormalities at that time included pancytopenia; positive antinuclear antibodies (ANA); and negative Ro, La, and anticardiolipin antibody titres. The mother also had positive ANA and was negative for Ro/La, said Dr. Maguiness, also of the university.
A skin biopsy shortly after birth revealed atrophic epidermis with areas of vacuolar interface dermatitis and increased mucin. Direct immunofluorescence showed granular IgG at the dermoepidermal junction, and the diagnosis of congenital lupus erythematosus was made, she said.
The patient's early disease course included three hospitalizations during infancy for inguinal hernia repair, respiratory distress, and exacerbation of cutaneous lesions. During the final hospitalization, the patient's ANA remained positive and double-stranded DNA became positive. He improved gradually after treatment with intravenous immunoglobulin, and had no evidence of recurrent disease at a follow-up visit at age 5 years. He was lost to follow-up until presenting at age 15.
At that time, he had an extensive rash and several other symptoms, including arthritis, headaches, and high blood pressure.
“He had widespread, hyperpigmented, annular, atrophic, hyperkeratotic lesions over sun-exposed areas,” Dr. Maguiness said, noting he also had diffuse alopecia.
There was an unusual background of hypo- and depigmentation over his trunk, which, according to the patient, had been present since birth but looked like partially treated vitiligo, she said.
Multiple investigations revealed strongly positive ANA, anti-Ro/La antibodies, positive small nuclear ribonucleoproteins, and renal involvement. A biopsy indicated class II lupus nephritis.
A biopsy of the upper outer arm that was taken to confirm the diagnosis showed an acute interface dermatitis with vacuolar changes, necrotic keratinocytes, parakeratosis, and a positive direct immunofluorescence, leading to the diagnosis of SLE with extensive cutaneous involvement.
The patient was hospitalized and treated with pulse Solu-Medrol, hydroxychloroquine, antihypertensives, and topical steroids, Dr. Maguiness noted.
His renal disease has remained stable, but the cutaneous aspect of his disease has been difficult to control despite immunosuppression, she said.
Mainly, the patient has had discoid and subacute cutaneous lupus erythematosus-type lesions. In December, however, he experienced a cutaneous exacerbation with more target lesions, despite having no history of herpes simplex infection. He had violaceous plaques with some desquamation and involvement of the palms and soles. His mucous membranes were clear.
Another biopsy from his trunk at this presentation showed vacuolar interface dermatitis with subdermal clefting and numerous necrotic keratinocytes, which could be consistent with either bullous lupus erythematosus or bullous erythema multiforme.
Direct immunofluorescence in this exacerbation was negative (previously it was positive), suggesting a diagnosis of Rowell's syndrome, which “very basically is erythema multiforme occurring in the setting of systemic lupus,” she said.
“Our patient's case … raises interesting questions about this congenital presentation of lupus. It is unusual for patients with typical neonatal lupus to develop SLE later on. This case makes one wonder if maybe that we should be questioning the sole role of maternal autoantibodies in this patient's case of congenital lupus. Perhaps he had some endogenous predisposition to develop lupus. This is the first patient we have observed with the clinical presentation of congenital, neonatal, and infantile lupus progressing to systemic lupus erythematosus as a teenager,” Dr. Maguiness said.
Discoid, hyperkeratotic, and hyperpig-mented plaques are seen on teen's face.
Biopsy shows interface dermatitis, necrotic keratinocytes, and subepidermal clefting. Photos courtesy Dr. Sheilagh Maguiness