Salivary gland choristoma (heterotopic salivary gland tissue) on the anterior chest wall of a newborn.
2014; 31 (1): e36-7
Sudden Onset Vision Loss in an 8-year-old Female with McCune-Albright Syndrome.
2014; 31 (1): 80-82
Salivary gland choristoma (heterotopic salivary gland tissue) is a rare condition typically seen in the newborn period. This developmental heterotopia is generally nonprogressive, with little risk of malignant transformation. We present the second known reported case of a salivary gland choristoma located on the anterior chest wall. Knowledge of this rare entity will allow for accurate diagnosis and management of this benign anatomic variant.
View details for DOI 10.1111/pde.12159
View details for PubMedID 23679208
Birthmarks of medical significance in the neonate
SEMINARS IN PERINATOLOGY
2013; 37 (1): 16-19
We describe a case of an 8-year-old girl with large irregular café au lait macules on the right cheek and right lower extremity presenting with sudden onset vision loss and found to have polyostotic fibrous dysplasia on imaging. The classic triad of McCune-Albright syndrome is discussed along with the importance of recognition in patients with partial presentation. This case also highlights a rare and potentially devastating neurologic complication of McCune-Albright syndrome, as well as the need for early diagnosis and continual surveillance in these patients.
View details for DOI 10.1111/j.1525-1470.2012.01800.x
View details for PubMedID 23013381
Clear-Cell Papulosis: A Rare Entity That May Be Misconstrued Pathologically as Normal Skin
2012; 29 (2): 195-198
Birthmarks are commonplace and most pose no significant detriment to health. It is usual for some 'birthmarks' to manifest within the first weeks to months of life and are not necessarily seen at birth. This is attributed in large part to the maturation of neonatal skin and the deepening of skin color over time. With time, increased pigment production in the skin by melanocytes eventually highlight the differences between normal and abnormal hypopigmented and hyperpigmented anomalies of the skin. Birthmarks can be seen as an isolated skin condition or serve as an important diagnostic aid for other more significant disorders. This review details four of the most common birthmarks regularly encountered in the neonatal period by perinatologists, obstetricians and pediatricians. This review emphasizes their medical significance and highlights any associated underlying systemic disease or genetic syndrome.
View details for DOI 10.1053/j.semperi.2012.11.007
View details for Web of Science ID 000315664900004
View details for PubMedID 23419758
Rapidly Involuting Congenital Hemangioma Associated with Profound, Transient Thrombocytopenia.
We describe a case of multiple, discrete, hypopigmented macules in the suprapubic and axillary region in a healthy 3-year-old girl. The lesions first appeared at approximately 9 months of age and increased in number over time. Initial histopathologic examination by an outside dermatopathologist at 1 year of age was reported as showing nonspecific histologic changes. A repeat biopsy at 3 years of age showed large intraepidermal clear cells that expressed CKAE1/CAM5.2, CK7, and BRST2. These findings are diagnostic for clear-cell papulosis, a rare condition that primarily affects children. Without great clinical and pathologic suspicion, this is a diagnosis that can often be overlooked because the histologic findings are virtually identical to those of normal skin.
View details for DOI 10.1111/j.1525-1470.2011.01614.x
View details for Web of Science ID 000301434800012
View details for PubMedID 22142549
Delineating Capillary Malformations in the Operating Suite Using White Eyeliner Pencil
2011; 28 (6): 746-747
Rapidly involuting congenital hemangioma (RICH) is an uncommon, often high-flow vascular tumor that presents at birth and involutes within the first year of life. It is clinically and histologically distinct from infantile hemangioma, kaposiform hemangioendothelioma, and tufted angioma, the latter two being associated with Kasabach-Merritt phenomenon. We present a female infant with RICH and profound, transient thrombocytopenia and review the extent and clinical course of thrombocytopenia in the context of congenital vascular tumors.
View details for PubMedID 22937785
Chronic rhinitis: a manifestation of leprosy.
Ear, nose, & throat journal
2011; 90 (9): E1-3
Delineating the extent of capillary malformations in the operating suite can be challenging because of a variety of physiologic modifiers, including vasodilatation induced by anesthesia, reactive erythema, and filtering of colors with protective laser eyewear. The use of traditional surgical pens to mark the treatment field has limitations; we have found the use of a white eyeliner pencil to delineate lesions a contemporary technique that assists in identifying the target tissue intraoperatively.
View details for DOI 10.1111/j.1525-1470.2011.01545.x
View details for Web of Science ID 000297932400034
View details for PubMedID 21854417
Congenital Epidermolysis Bullosa Acquisita Vertical Transfer of Maternal Autoantibody From Mother to Infant
ARCHIVES OF DERMATOLOGY
2011; 147 (3): 337-341
Leprosy, or Hansen disease, is an infection that affects the mucous membranes of the respiratory tract and may manifest with nasal symptoms of chronic rhinitis, including nasal congestion, rhinorrhea, and intermittent epistaxis. We present a case of a woman diagnosed with leprosy as an incidental finding from a biopsy obtained during endoscopic sinus surgery for the management of chronic rhinitis. The diagnosis of leprosy should be considered in patients with nasal symptoms and presumptive chronic rhinitis who do not respond adequately to standard therapies.
View details for PubMedID 21938685
Distraction anesthesia for pediatric dermatology procedures
2007; 24 (4): 419-420
Successful acne management in Apert syndrome twins
2005; 22 (6): 561-565
Epidermolysis bullosa acquisita (EBA) is a rare, chronic, autoimmune bullous dermatosis that is caused by autoantibodies against the noncollagenous terminus of the ? chain of type VII collagen, resulting in decreased anchoring fibrils in the lamina densa. It classically presents with skin fragility and trauma-induced blisters that are particularly extensive over the distal aspect of the extremities and that heal with milia, dyspigmentation, and scarring, similar in presentation to dystrophic epidermolysis bullosa. Disease onset is typically in adulthood, although rare cases of childhood disease occur. To our knowledge, a case involving a neonate with congenital EBA has not yet been reported in the literature. We describe a newborn with transient EBA due to the passive transfer of maternal autoantibodies.A 2-day-old girl was evaluated for tense blisters and areas of denuded skin that had been present since birth. Her mother carried the diagnosis of EBA. The results of histopathologic analysis, immunofluorescence studies, and enzyme-linked immunosorbent assay confirmed the diagnosis of neonatal EBA. The patient improved with supportive therapy and has not required systemic intervention.Autoimmune neonatal bullous skin disease caused by placental transfer of maternal IgG autoantibodies is rare. It has been reported in neonates born to mothers with pemphigus vulgaris, pemphigus foliaceus, and gestational pemphigoid. To our knowledge, congenital EBA has not been previously reported. Vertically acquired congenital autoimmune blistering disorders appear to be self-limited and resolve with supportive therapy, concomitant with the presumed clearance of maternal autoantibodies from the neonate's circulation.
View details for DOI 10.1001/archdermatol.2010.317
View details for Web of Science ID 000288611200012
View details for PubMedID 21079052
Apert syndrome, or acrocephalosyndactyly, is characterized by craniosynostosis and early epiphyseal closure resulting in various deformities of the skull, hands, and feet. Typically a sporadic condition, autosomal dominant inheritance with complete penetrance has been known to occur. Most adolescents with the disorder are prone to the development of severe pustular facial and truncal acne, with extension to the upper arms and forearm. We report twin brothers with Apert syndrome who, after 2 years of standard management by their pediatrician, were referred for management of complicated acne. In our patients there were a constellation of findings consistent with the disorder and, of importance to this report, significant dermatological manifestations. On presentation, each brother was found to have acne vulgaris of a different stage. Our patients were refractory to conventional treatment for acne but one required and had a significant response to isotretinoin. The risk/benefit ratio in treating acne lesions with isotretinoin in a teenager with Apert syndrome is reviewed.
View details for Web of Science ID 000233436400013
View details for PubMedID 16354263