Richard J. Antaya

Cutaneous Complications of BCG Vaccination in Infants with Immune Disorders: Two Cases and a Review of the Literature

Abstract: Two infants, one with a T‐cell‐signaling defect resulting in a primary immunodeficiency syndrome and the other with severe combined immunodeficiency (SCID), are described. Both infants developed cutaneous infections secondary to their bacillus Calmette–Guérin (BCG) vaccinations. Both patients were from countries where BCG is routinely administered in infancy. The infant with the T‐cell‐signaling defect developed a disseminated infection involving the skin, while the infant with SCID developed a localized cutaneous infection at the site of his BCG immunization. These two cases resemble other reported cases of cutaneous BCG infection following routine vaccination in immunocompromised patients. Mycobacterium bovis infection should be considered in patients with cutaneous eruptions who have received BCG vaccination, especially those who are immunocompromised.

Nevus Anelasticus, Papular Elastorrhexis, and Eruptive Collagenoma: Clinically Similar Entities with Focal Absence of Elastic Fibers in Childhood

Abstract:u2002 Focal absence of elastic fibers is a defining characteristic of three rare, clinically similar conditions: nevus anelasticus, papular elastorrhexis, and eruptive collagenoma. We present a 16‐year‐old with nevus anelasticus treated with intralesional steroid injections, resulting in erythematous atrophic depressions. We also review the English language literature on nevus anelasticus, papular elastorrhexis, and eruptive collagenoma. There may be sufficient clinical and histopathologic similarity to indicate that these three entities represent a single disease or disease spectrum. We believe that this entity should be referred to as papular elastorrhexis.

Yellow nail syndrome in three siblings: a randomized double-blind trial of topical vitamin E.

Abstract:u2002 Yellow nail syndrome is an uncommon disorder characterized by dystrophic nails, lymphedema, and respiratory disease. It has rarely been reported in children and this is the first report of congenital yellow nails in siblings. The purpose of this study was to determine whether topical vitamin E applied to the nail plates and periungual skin would affect the growth rate or appearance of the fingernails in patients with congenital yellow nail syndrome. This study was the first trial of a treatment for this entity in children and the largest randomized double blind trial to date. We found that vitamin E solution had no significant effect (pu2003=u20030.84) on fingernail growth or the global appearance score (pu2003=u20031.0) when compared with placebo. The average growth rates and global assessment scores improved and onycholysis and onychomadesis decreased from baseline with both vitamin E and placebo treatment, although these were not primary end points of the study. Topical vitamin E did not result in a statistically significant improvement when compared with oil alone for the treatment of the nails in our three patients with yellow nail syndrome. However, it is interesting and perhaps clinically useful that both vitamin E and placebo oil improved the condition of the nails.

A report of GJB2 (N14K) Connexin 26 mutation in two patients--a new subtype of KID syndrome?

Abstract:u2002 Keratitis–ichthyosis–deafness syndrome is a rare congenital ectodermal disorder, characterized by presence of skin lesions, neurosensory hearing loss, and vascularizing keratitis. Several autosomal dominant mutations in the Connexin 26 gene (GJB2) have been discovered as a cause of this syndrome. We report two patients who presented with a combination of clinical features of keratitis–ichthyosis–deafness syndrome (e.g., congenital bilateral neurosensory hearing loss and erythrokeratoderma), however, lacking other characteristics typical of this condition. In addition, they both demonstrated striking mucocutaneous findings (e.g., chronic lip fissuring, gingival hyperemia), resulting in diagnostic difficulties. In both patients, a GJB2 mutation (N14K) was identified, which shares the same gene with classic Keratitis–ichthyosis–deafness syndrome but has never been described in patients with this condition. We propose that the findings observed in our patients are a distinct subtype of Keratitis–ichthyosis–deafness syndrome, thus expanding the spectrum of connexin‐associated keratodermias.

Capillary Malformation—Arteriovenous Malformation Syndrome: Review of the Literature, Proposed Diagnostic Criteria, and Recommendations for Management

Capillary malformation–arteriovenous malformation syndrome is an autosomal dominant disorder caused by mutations in the RASA1 gene and characterized by multiple small, round to oval capillary malformations with or without arteriovenous malformations. Ateriovenous malformations occur in up to one‐third of patients and may involve the brain and spine. Although making the diagnosis is straightforward in some patients, there are other patients for whom diagnostic criteria may be helpful in their evaluation. Here we review the literature regarding capillary malformation−arteriovenous malformation syndrome, propose diagnostic criteria, and discuss the care of patients with this condition.

Pediatric Dermatology: Past, Present, and Future

Up to 30% percent of pediatric primary care visits include a skin‐related problem, and referrals are hampered by appointment wait times among the longest of any pediatric subspecialty. Despite the clear demand for pediatric dermatologists, there has been a long‐standing shortage of providers, leaving dermatology as one of the most underserved pediatric subspecialties. Another consequence of the workforce shortage is the limited opportunity for pediatric dermatology training for residents and postgraduate general pediatricians and dermatologists. This review includes the evolution of the subspecialty from conception through the present, along with obstacles to workforce expansion and potential solutions to improve access to care for children with skin diseases.

Symmetric Aplasia Cutis Congenita Associated with Fetus Papyraceus: Report of Two Cases

Abstract:u2002 We present two cases of neonates born with symmetric aplasia cutis congenita associated with intrauterine fetal demise of cotwins during the early second trimester. Fetus papyraceus resulting in aplasia cutis congenita is a rare association with many clinical presentations, including extratruncal symmetric lesions and small linear, arcuate, and triangular lesions when twin intrauterine demise occurs after the first trimester.

Histopathologic and Ultrasound Characteristics of Cutaneous Capillary Malformations in a Patient with Capillary Malformation–Arteriovenous Malformation Syndrome

Capillary malformation–arteriovenous malformation (CM‐AVM) syndrome is an autosomal dominant disorder caused by mutations in RASA1. Multifocal, small, round‐to‐oval, pinkish‐to‐red cutaneous capillary malformations are seen in more than 90% of people with RASA1 mutations. These RASA1‐associated cutaneous capillary malformations (CMs) can accompany internal or cutaneous arteriovenous malformation (AVM) or arteriovenous fistula to constitute CM‐AVM syndrome. The cutaneous capillary malformations in CM‐AVM syndrome are unusual in that some lesions have high‐flow characteristics (according to Doppler or a white halo). We describe the histopathologic and corresponding ultrasound and Doppler findings in a CM from a patient with clinical CM‐AVM syndrome and show that an arterial component is not present in the dermis or the most superficial portions of the subcutaneous fat but that there is ultrasound evidence that an AVM resides in the underlying adipose tissue.

Congenital Kaposiform Hemangioendothelioma with Kasabach–Merritt Phenomenon Successfully Treated with Low-Dose Radiation Therapy

Kaposiform hemangioendothelioma (KHE) associated with Kasabach–Merritt phenomenon is a life‐threatening vasculopathy. The current mainstay treatment for KHEs is corticosteroids and chemotherapy, but these medications do not work for all patients and carry significant side effects. We report a neonate with a large congenital KHE who responded extremely well to low‐dose radiation therapy.

An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred.

Abstract:u2003 Epidermolysis bullosa pruriginosa (EBP) is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by intense pruritus, nodular or lichenoid lesions, and violaceous linear scarring, most prominently on the extensor extremities. Remarkably, identical mutations in COL7A1, which encodes an anchoring fibril protein present at the dermal–epidermal junction, can cause both DEB and EBP with either autosomal dominant or recessive inheritance. We present one family with both dystrophic and pruriginosa phenotypes of epidermolysis bullosa. The proband is a 19‐year‐old Caucasian woman who initially presented in childhood with lichenoid papules affecting her extensor limbs and intense pruritus consistent with EBP. Her maternal grandmother saw a dermatologist for similar skin lesions that developed without any known triggers at age 47 and mostly resolved spontaneously after approximately 10u2003years. The proband’s younger brother developed a small crop of pruritic papules on his elbows, dorsal hands, knees, and ankles at age 13. Her second cousin once removed, however, reported a mild blistering disease without pruritus consistent with DEB. Genetic sequencing of the kindred revealed a single dominant novel intron 47 splice site donor G>A mutation, c.4668u2003+u20031u2003G>A, which we predict leads to exon skipping. Incomplete penetrance is confirmed in her clinically unaffected mother, who carries the same dominant mutation. The wide diversity of clinical phenotypes with one underlying genotype demonstrates that COL7A1 mutations are incompletely penetrant and strongly suggests that other genetic and environmental factors influence clinical presentation.