Presenter: Chris Weyer, DO; Bo Rivera, DO; Jonathan Cleaver, DO
Dermatology Program: Northeast Regional Medical Center – Kirksville
Program Director: Lloyd J. Cleaver, DO
Submitted on: Mar 14, 2010
CHIEF COMPLAINT: 27 year old female presents with complaints of oral and genital lesions.
Signs and symptoms: 27 year old female presents with at least a 1 year history of perioral lesions and greater than 3 year history of genital lesions. The genital lesions “itch” and “burn”. The lesions bleed if picked excessively. She also notes some burning and frequency of urination. Recent pap smears have been normal. Extensive questioning revealed decreased sweating by patient.
Previous Treatment: None
Other information: Past Medical History – Yeast infections after antibiotic use, HIV negative
Past Surgical History – None
Social History – 1 pack per day tobacco, rare alcohol
Family History – denies
Medications – Ibuprofen as needed, levonorgestrel intrauterine device (Mirena)
Allergies – None
Examination revealed pink, verrucous papules, 2-4mm in size periorally, in the groin, on the upper medial thighs and on the buttocks. Her bilateral arms and legs were significant for hypopigmented atrophic scars with telangiectasias and yellowish nodules in linear array following Blaschko’s lines. Her right hand only had four digits and her right and left feet had three digits. Orally, poor dentition was noted.
X-ray examinations were reported as follows:
bilateral femurs – There are longitudinal striations that involve the metaphysis with extensions into the epiphyses and diaphysis bilaterally. The findings are consistent with osteopathia striata.
tibia/fibula – There are longitudinal striations that involve the metaphysis with extensions into the epiphyses and diaphysis bilaterally. The findings are consistent with osteopathia striata. There is an ill-defined radiolucent defect of the proximal right fibula, this may be consistent with an early chondroblastoma.
right hand – The examination demonstrates a deformity of the right hand consistent with a cleft hand. There is complete congenital absence of the fifth digit. Also noted are clinodactyly of the first digit, brachiadactyly of the fourth digit with shortening of the proximal phalanx and complete congenital absence of the middle phalanx. Additionally the distal phalanx is rudimentary. There are congenital changes of the wrist as well. Marked enlargement of the capitate with congenital absence of the triquetrum and pisiform are seen. Findings suggesting acquired ulnar positive variance. Also, a 3.2 x 1.1 cm expansile radiolucent defect of the right second metacarpal is present. There are internal stippled calcifications with a surrounding sclerotic margin, possibly a solitary chondroblastoma.
left hand – normal
Dermatopathology results are as follows:
L lateral oral commissure: verrucous keratosis
L medial thigh: inflamed condyloma acuminatum
R superior lateral arm: dermal hypoplasia with normal elastin fibers demonstrated by elastin special stains
R labia majora – condyloma acuminatum
1. Condyloma acuminatum
2. Nevus lipomatous superficialis
3. Goltz Syndrome
4. Incontinentia pigmentii
5. Rotmund-Thompson Syndrome