Trichorhinophalangeal syndrome type II associated with aplasia cutis congenita in a neonate.

Aplasia cutis congenita (ACC) was diagnosed in a newborn with dysmorphic facial features, oligodactyly of the bilateral feet, and hip instability. The neonate's clinical abnormalities in addition to genetic testing confirmed a diagnosis of trichorhinophalangeal syndrome (TRPS) type II. The possibility of concurrent Adams-Oliver syndrome (AOS) is raised.

Treatment of psoriasis in end-stage renal disease patients is associated with decreased mortality: A retrospective cohort study.

BACKGROUND: Psoriasis impairs the quality of life of approximately 7.5 million Americans and is associated with serious comorbidities. Because of chronic vascular access and epidermal dysfunction, end-stage renal disease (ESRD) patients with psoriasis may be at greater risk for infection, and psoriasis treatment could affect this risk. METHODS: A retrospective cohort analysis was performed using the United States Renal Data System from 2004-2011 to investigate the association of psoriasis with infections common to ESRD patients, as well as the effect of psoriasis treatment on infection risk as well as mortality. RESULTS: A total of 8,911 psoriasis patients were identified. Psoriasis was associated with a significantly increased risk for all queried infections, especially cellulitis (adjusted relative risk = 1.55), conjunctivitis (1.47), and onychomycosis (1.36). Psoriasis treatment (systemic, local, and light) was associated with a significantly decreased risk of some infections. Psoriasis treatment was also correlated with a significantly decreased risk of mortality, with systemic therapies (biologics and other immunosuppressants) showing the greatest reduction (adjusted hazard ratio = 0.55). CONCLUSIONS: These results suggest that psoriasis-ESRD patients may have an increased risk of infection and treatment of psoriasis is associated with a reduced risk of some infections and improved survival.

Balloon purpura.

Valsalva maneuvers have the potential to cause dermal capillary rupture manifesting as purpura and petechiae. We present a unique case of Valsalva purpura occurring in a 12-year-old girl after blowing up multiple balloons at a birthday party. Obtaining a detailed history proved essential to the diagnosis and curtailed any unnecessary workup or concern.

An Anatomical Guide to the Terminal Facial Artery: Lumen Diameter and Associated Anatomy Relevant to Dermatologic Procedures.

BACKGROUND: Dermal filler injection in the vicinity of the terminal facial artery (FA) can lead to vascular compromise with devastating consequences, including tissue necrosis, blindness, and stroke. OBJECTIVE: The purpose of this study was to examine lumen diameter and other anatomical features of the terminal FA relevant to dermal filler injection. MATERIALS AND METHODS: Eighteen embalmed adult cadavers were dissected along the distribution of the terminal FA. Gross and microscopic measurements were taken at predetermined points in its course. RESULTS: Mean lumen diameter was largest at the midpoint between the oral commissure and the lateral supra-alar crease (0.81 ± 0.36 mm; point P1) and smallest at the midpoint between the lateral supra-alar crease and the medial canthus (0.43 ± 0.23 mm; point P3). Mean cutaneous depth was deepest at the lateral supra-alar crease (5.06 ± 1.84 mm; point P2) and most superficial at the midpoint between the lateral supra-alar crease and the medial canthus (3.13 ± 2.07 mm; point P3). CONCLUSION: The large-caliber lumen diameter of the terminal FA creates the potential for intra-arterial injection with commonly used filler needles and blunt-tipped cannulas at all points in its course in the nasolabial fold and midface.

Skin necrosis in spinal muscular atrophy: Case report and review of the literature.

Spinal muscular atrophy (SMA) type 0 is the most severe phenotype of SMA and is characterized by hypotonia, muscle weakness, and respiratory distress. Cutaneous necrosis, first described in an SMA mouse model, can occur in patients with severe disease; the use of targeted treatment versus supportive measures in the setting of skin necrosis is debated. We present a male infant with SMA type 0 with cutaneous necrosis of proximal and distal limbs who improved with supportive care. The seven previously reported cases of SMA skin necrosis are reviewed.

Waxy fingers and skin tethering.

The patient sought care for a burn he hadn't felt when he'd held a hot cup of coffee. His history, and the appearance of his hands, suggested a systemic disease at work.