Customize your JAMA Network experience by selecting one or more topics from the list below.
Evidence of Postzygotic Mosaicism in a Transmitted Form of Conradi-H ünermann-Happle Syndrome Associated With a Novel EBP Mutation
X-linked dominant chondrodysplasia punctata (CDPX2), also known as Conradi-H ünerman-Happle syndrome, is a rare skeletal dysplasia characterized by short stature, craniofacial defects, cataracts, ichthyosis, coarse hair, and alopecia. It is caused by mutations in the EBP gene located on the X chromosome and is seen almost exclusively among female patients, since it seems to be lethal early in male children. In this case report, Morice-Picard et al describe a small erythematous ichthyosiform skin lesion in an otherwise asymptomatic mother of a girl with CDPX2. Skin biopsy confirmed postzygotic cutaneous mosaicism, and transmission of this disorder to the daughter suggests gonadal mosaicism. Thorough skin and ophthalmologic examinations are warranted in mothers of children born with CDPX2, with appropriate genetic counseling.
Vulvar Verruciform Xanthoma
Verruciform xanthoma (VX) is a rare benign tumor that usually involves the oral cavity. In this case series, Fite et al describe the features of 10 cases of vulvar VX. These lesions affected mainly postmenopausal women and usually presented as solitary, verrucous, yellowish-orange plaques. All 10 cases were associated with an underlying disorder: lichen sclerosus, lichen planus, Paget disease, and radiodermatitis. When confronted with a vulvar VX, both clinician and pathologist should scrutinize the vulva for an associated condition that may have been overlooked on previous examination.
Paternal Germ Cell Mosaicism in Autosomal Dominant Pachyonychia Congenita
Pachyonychia congenital (PC) is a rare autosomal dominant genodermatosis caused by mutations in genes for keratins 6a, 6b, 16, or 17. Affected parents are routinely counseled about the 50% transmission risk to offspring. Rare spontaneous in utero mutations have been described in children with unaffected parents. In this case report, Pho et al describe 2 siblings with PC born to unaffected parents. Keratin mutational analysis of family members revealed germ cell mosaicism for keratin 6a mutation in the father. While germ cell mosaicism is rare, counseling of clinically unaffected parents of affected children should include mention of this rare recurrence risk in subsequent children.
Demographic and Clinical Characteristics and Risk Factors for Infantile Hemangioma
Infantile hemangiomas are the most common vascular tumors of childhood. Most are small and innocuous, but some cause functional deficits, life-threatening conditions, or permanent sequelae. In this case-control, prospective study of Chinese children, Li et al demonstrate that significant risk factors for hemangiomas included lower level of maternal education, maternal manual labor, multiple gestation, maternal medication use, and family history. Lesion size and location were significant prognostic factors for complications and steroid therapy. The social inequalities that may play a role in the Chinese population may help provide clues to preventing infantile hemangiomas.
Systemic and Vascular Inflammation in Patients With Moderate to Severe Psoriasis as Measured by [18F]-Fluorodeoxyglucose Positron Emission Tomography –Computed Tomography (FDG-PET/CT)
Psoriasis is a chronic inflammatory disease affecting 2% to 3% of the adult population. Psoriasis may be associated with inflammatory arthritis and increases in markers of inflammation. The association between this systemic inflammation and risks for incident diabetes mellitus, myocardial infarction, stroke, and premature cardiovascular (CV) death remains unclear. In this case series, Mehta et al used FDG-PET/CT to identify numerous foci of inflammation in 6 patients with psoriasis. Skin, liver, joints, tendons, and aorta were affected. Compared with controls, increased vascular inflammation in the aorta persisted even after adjustment for CV risk factors. This tool offers a powerful molecular imaging technique to assess whole-body inflammation in patients with psoriasis.
This Month in Archives of Dermatology. Arch Dermatol. 2011;147(9):1020. doi:10.1001/archdermatol.2011.259
Create a personal account or sign in to: