The following case study was used by Andrew J. White, MD, the James P. Keating, MD Professor of Pediatrics and division director of pediatric rheumatology, Washington University School of Medicine, and director of the St. Louis Children’s Pediatric Residency Program, as part of the “Patient of the Week” (POW) series. Many of the POW case studies cover uncommon illnesses, or common illnesses with unusual presentations. If you would like to be added to the POW email distribution, send an email to firstname.lastname@example.org.
HPI: 10-year-old boy with two weeks of hand and feet swelling and skin peeling. He had several days of rhinorrhea and cough starting around October 18. On October 29 he complained of his palms and soles being red, hot and painful. These symptoms progressed to swelling of his hands and feet, with a leathery texture of the skin, and more recently peeling that started at his fingertips. Also, he has a more recent onset of a symmetric, scaly red rash on the dorsal region of his feet and at the sides of his waist. He has had no fever, no enlarged lymph nodes, no arthralgias, no oral mucosal changes and no red eyes.
He was initially seen at an urgent care center and started on methylprednisone. He was then seen at another hospital but no diagnosis was made. WBC 12.4 (on methylpred at the time), Cr 0.8 and total protein 6.1. CRP <0.1 and ESR 5 mm/hr.
Presented to SLCH because his fingertips became red again and mom noticed the peeling and was concerned about an atypical presentation of Kawasaki’s disease, which she read about on the Internet. With one of the five criteria, and 0 days of fever, this was felt to be “unlikely.”
Constitutional: anorexia, decreased oral intake, fatigue
FH: Sudden cardiac death in sister, Hodgkins in mom
Recent travel: Smoky Mountains on 10/16, no ticks
Pets: Three cats, two fish
Sports: Plays soccer competitively
- Incomplete, atypical, non-febrile KD (i.e., not KD)
- Toxin mediated disease (SSS)
Results: CB normal (WBC 8.9), Mono negative, Enterovirus PCR negative, Multiplex negative. Echo normal (no dilated coronaries).
Consult: Dermatology examined the child:
DX: Pityriasis Rubra Pilaris (ICD10 L44.0)
Comments: PRP is a rare skin condition characterized by keratotic papules, erythematous plaques with scale and palmoplantar keratoderma. Most cases are sporadic, although just over 5 percent of cases have a family history, and are inherited in AD manner.
There are several types recognized:
- Classic Adult PRP
- Atypical Adult PRP
- Classic juvenile PRP
- Atypical Juvenile PRP (which is often the familial type)
The familial form is caused by a mutation in CARD14, on 17q25.3. As this is in the caspase pathway, the molecular mechanism may involve impaired apoptosis of epithelium (Ed. speculation). The etiologies in the non-familial forms have not yet been identified, but disease onset has been associated with infection, hypothyroidism, myositis and malignancy, as well as skin trauma and UV exposure.
The differential diagnosis includes seborrheic dermatitis, psoriasis, drug eruption, atopic dermatitis.
Response to treatment in the familial form has been “poor.” In up to 80 percent of adult cases, spontaneous remission occurs after 3-5 years.
1. Fuchs-Telem, D., Sarig, O., van Steensel, M. A. M., Isakov, O., Israeli, S., Nousbeck, J., Richard, K., Winnepenninckx, V., Vernooij, M., Shomron, N., Uitto, J., Fleckman, P., Richard, G., Sprecher, E. Familial pityriasis rubra pilaris is caused by mutations in CARD14. Am. J. Hum. Genet. 91: 163-170, 2012.
2. Sehgal, V.N., Srivastava, G. Juvenile pityriasis rubra pilaris. Int. J. Derm. 45: 438-446, 2006.
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And for those who have only recently heard of this disease:
4. Zeisler, E. P. Pityriasis rubra pilaris—familial type. Arch. Derm. 7: 195- 208, 1923