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.

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.

Lumen Diameter and Associated Anatomy of the Superior Labial Artery With a Clinical Application to Dermal Filler Injection.

BACKGROUND: Vascular compromise and subsequent tissue necrosis is a rare but disfiguring complication of dermal filler injection that frequently occurs in regions of the lip and nasolabial fold supplied by the superior labial artery (SLA). OBJECTIVE: The purpose of this study was to examine lumen diameter and other anatomical features of the SLA relevant to dermal filler injection in the clinical setting. MATERIALS AND METHODS: Eighteen adult cadavers were dissected. Detailed measurements of the SLA were taken at predetermined points along its course. RESULTS: Lumen diameter of the SLA was largest at the labial commissure (0.85 ± 0.34 mm; Point P1) and smallest at the midline (0.56 ± 0.21 mm; Point P4). The deepest mean cutaneous depth of the SLA was at its branch point from the facial artery (5.49 ± 1.95 mm; SLA branch point), whereas the most superficial mean cutaneous depth was at the midpoint between the labial commissure and peak of Cupid's bow (4.29 ± 1.54 mm; Point P2). CONCLUSION: The variable, superficial course of the SLA and its large caliber place it at significant risk for intra-arterial injection with dermal filler at all points along its course.

Comprehensive Review of Tissue Adhesives.

BACKGROUND: Cyanoacrylates, also known as tissue adhesives or skin glues, are commonly used as sealants for lacerations and incisions and have found utility in excisional and cosmetic surgeries in both outpatient and operating room settings. OBJECTIVE: To review the surgical literature on the utilities, advantages, disadvantages, and special uses of cyanoacrylates applicable to dermatology. MATERIALS AND METHODS: PubMed was reviewed for relevant articles related to cyanoacrylates and their use in skin closures. Articles unrelated to cutaneous closures were excluded. RESULTS: Tissue adhesives polymerize to a water resistant, pliable film after application to approximated wound edges and have antibacterial properties. Adhesives slowly slough off as the wound heals, typically after 5 days. Compared with 5-0 nonabsorbable suture, adhesives provide similar tensile strength and similar patient and surgeon satisfaction. Although slightly more expensive than sutures, tissue adhesives obviate the need for wound dressings and suture removal. They do not perform as well as sutures for wounds under higher tension or in the setting of moisture and inadequate hemostasis. CONCLUSION: Cyanoacrylates serve as a safe and effective suture alternative in appropriate dermatologic surgeries and procedures.

Blepharochalasis: something to cry about.

Blepharochalasis is a rare disorder of unknown etiology defined by loose, atrophic periorbital skin following recurrent episodes of eyelid edema. Characteristic histopathology shows complete absence of elastic fibers. The current case progressed after multiple episodes of crying, which may be related to matrix metalloproteinase dysregulation. This case offers further insights into the possible pathogenesis of blepharochalasis, paving the way for more targeted, disease-modifying therapies.

Vulvar Varicosities: A Review.

BACKGROUND: Vulvar varicosities (VV) are dilated and tortuous veins occurring within the external female genitalia. Patients may seek treatment of these varices for both medical and cosmetic purposes. In some patients, VV may be associated with a chronic pelvic pain syndrome called pelvic congestion syndrome (PCS). OBJECTIVE: To review the English language literature on VV in both pregnant and nonpregnant women. MATERIALS AND METHODS: A literature search pertaining to vulvar varicosities and PCS was performed using PubMed and Google Scholar databases. RESULTS: There is an overall paucity of literature discussing VV, particularly in nonpregnant women without PCS. Management options for VV include compression, sclerotherapy, embolization, and surgical ligation. Treatment can be dependent on the coexistence of pelvic or leg varicosities and may require referral to a vein specialist for advanced imaging techniques and procedures. Direct sclerotherapy to VV may not provide adequate treatment if pelvic or leg varices are also present. CONCLUSION: In women with persistent VV, imaging studies should be obtained before treatment to evaluate the surrounding venous anatomy of the pelvis and leg, as the results often affect the treatment approach. Patients presenting with VV and chronic pelvic pain should be evaluated for PCS.

Atypical Scleredema Involving the Hands in an Adolescent.

Scleredema is a rare and incompletely understood disorder characterized by progressive skin thickening and induration typically affecting the trunk, neck, and proximal upper extremities. Hand and finger involvement is exceptionally rare, having been reported in only two infection-related cases. We present an atypical case of postinfectious scleredema involving the hands and discuss scleredema as an important potential cause of hand tightness and induration in adolescents.

Early Recognition of Proteus Syndrome.

Proteus syndrome is an extremely rare mosaic condition characterized by progressive overgrowth of tissues due to a somatic activating mutation of the AKT1 gene. Distinct cutaneous features, including cerebriform connective tissue nevi, epidermal nevi, vascular malformations, and adipose abnormalities, can alert the dermatologist to the underlying condition before the onset of asymmetric skeletal overgrowth. We present a series of photographs documenting the skin and musculoskeletal changes in a patient with Proteus syndrome over the first 2 years of life to emphasize the key signs that a dermatologist can recognize to facilitate an earlier diagnosis in these patients.

Pemphigus Vulgaris Presenting as Chronic Vulvovaginal Erosions: The Importance of Autoantibody Testing: A Case Report.

Background: Pemphigus vulgaris is a rare autoimmune bullous disease characterized by mucosal erosions. Pathogenic autoantibodies are directed against desmoglein 3, leading to intraepidermal blister formation. The oral cavity is typically the initial and most common site of involvement, but the female genital tract can also be involved. We present a case of pemphigus vulgaris presenting as chronic vulvovaginal erosions. Case: A 59-year-old woman presented with a rare sore in her mouth and an 18-month history of vaginal burning, irritation, and white discharge. Previous workup included negative vaginal culture for yeast, nondiagnostic vulvar biopsy, and normal cervical smear. Clobetasol cream had provided minimal relief. Biopsy of an erosion of the vulvar vestibule showing loss of epidermis with acantholysis prompted indirect immunofluorescence testing. High titer immunoglobulin G antibodies directed against epithelial cell surfaces confirmed a diagnosis of pemphigus vulgaris, explaining an 18-month history of isolated chronic vulvovaginal erosions. Conclusion: Female genital tract involvement by pemphigus vulgaris usually occurs in the setting of extensive involvement at other sites, most notably the oral mucosa. Primary involvement of the genital mucosa is unusual. Confirmatory diagnosis is made with testing for autoantibodies, either with direct or indirect immunofluorescence or enzyme-linked immunosorbent assay.

Congenital Plantar Angiofibroma-Like Hamartoma.

A 2-year-old girl presented with a congenital, slow-growing, exophytic nodule on the plantar surface of the foot. Histopathology revealed a hamartoma consisting of dermal angiofibroma features with overlying epidermal verruciform hyperplasia.

Bullous pemphigoid induced by hydrochlorothiazide therapy.

The most common subepidermal blistering disorder, bullous pemphigoid (BP) typically occurs in the elderly without any obvious inciting event. 1 Anti-basement membrane zone antibodies are typically detected on direct and indirect immunofluorescence studies. 2 A flu-like prodromal phase with a non-specific urticarial dermatitis may herald the development of the more characteristic tense bullae. 3 Obtaining a thorough medication history is important as a number of pharmacological agents have been reported to trigger this same phenomenon. We report a case of generalized BP induced by hydrochlorothiazide therapy in a 32-year-old male.

Lichenoid drug reaction following influenza vaccination in an HIV-positive patient: a case report and literature review.

Lichenoid drug reactions to vaccinations are rare but well-documented events. The vast majority of these reported reactions have been triggered by Hepatitis B vaccination (HBV). We describe an impressive generalized lichenoid drug reaction following the influenza vaccination. A 46-year-old African-American woman with a history of treated human immunodeficiency virus (HIV) disease developed a diffuse, pruritic rash one day following vaccination against the influenza virus. Physical exam and histopathology were consistent with a lichenoid drug eruption. This is only the fifth reported case of lichenoid drug reaction, and only the second generalized case, following influenza vaccination. The patient's underlying HIV disease, known to be a risk factor for both cutaneous drug reactions and more severe manifestations of lichen planus, likely predisposed her to this generalized hypersensitivity phenomenon.

Unusually severe case of dermatosis neglecta.

An 18-year-old black woman with cerebral palsy was admitted for evaluation of an intrathecal baclofen pump site infection. The dermatology service was consulted for treatment suggestions of a presumed diagnosis of chronic tinea capitis. Three courses of oral griseofulvin during the past 2 years failed to resolve the patient's chronic scalp dermatosis. Scalp lesions first began about 2 years earlier after hospitalization for placement of an intrathecal baclofen pump. The patient was unable to care for her scalp due to her cerebral palsy, and her mother interpreted the scalp condition as infectious. No routine shampoo care, scalp care, or topical treatment was performed for more than 1 1/2 years. The mother felt that touching the patient's scalp might cause pain and noted that the majority of her time was spent concentrating on more critical medical issues. Physical examination revealed coalescing hyperkeratotic plaques extending dorsally from the anterior hairline to the occipital scalp with small flecks of keratinous debris throughout the remaining hair (Figure 1). The plate-like plaques were devoid of hair, except at a few fissures where a few tufts of hair emerged. No cervical lymph nodes were appreciated on palpation. Treatment was initiated with compresses consisting of large warm water-soaked towels 4 times daily. Three times a day, a nursing staff applied 5% salicylic acid in olive oil to the scalp under a shower cap for approximately 1 hour. Over the following 2 days, a significant reduction in keratinous debris was appreciated. Within 2 weeks, the bulk of the plaques had been removed (Figure 2). At 6-week follow-up, the underlying scalp showed areas of fibrosis and possible scarring with a few emerging tufts of hair. On the basis of history and response to treatment with salicylic acid and routine scalp care, the patient was diagnosed with an unusually severe case of dermatosis neglecta.

Multiple nuchal fibromas in a 2-year-old without Gardner syndrome.

Nuchal fibromas, uncommon benign soft tissue tumors typically arising along the posterior neck, are often associated with Gardner syndrome (GS). These tumors have rarely been reported in association with scleroderma or as secondary to trauma and diabetes. Nuchal fibromas not associated with GS have been described predominantly in men aged 30 to 50. We report a 2-year-old African American girl with multiple nuchal fibromas along the posterior aspect of her neck and upper back. Retinal examination showed no signs of congenital hypertrophy of the retinal pigment epithelium, and genetic testing for the adenomatous polyposis coli gene mutation seen in GS was negative.