A 9-year-old girl with blisters on the hands and face: An early presentation of variegate porphyria.

Variegate porphyria (VP) is a rare subtype of porphyrias characterized by dysfunction of enzymes in the heme biosynthesis pathway leading to an accumulation of porphyrins and their precursors. The resulting buildup can manifest as neuropsychiatric symptoms and photosensitive blistering eruptions on sun-exposed skin. We report a case of VP in a 9-year-old girl with many confounding medical factors that warranted alternative explanations for her cutaneous lesions. VP has been reported infrequently in the pediatric population and is associated with more severe neuropsychiatric outcomes compared to adult-onset disease.

The CROWNing Event on Hair Loss in Women of Color: A Framework for Advocacy and Community Engagement (FACE) Survey Analysis.

Hair loss is a primary reason for women with skin of color to seek dermatologic care. In addition to physical disfigurement, patients with hair loss are more likely to report feelings of depression, anxiety, and low self-esteem. There is a critical gap in dermatology advocacy efforts and educational information intended for women with skin of color. In July 2021, the Virginia Dermatology Society planned a virtual event on hair loss and practical political advocacy for women of color. Event attendees completed pre- and postevent Likert scale surveys that assessed participant attitudes, knowledge, and awareness surrounding hair loss. A resource toolkit for both patients and physicians also was created, which included articles about evaluating, diagnosing, and treating different types of hair loss that would be beneficial for dermatologists, as well as informational articles, links, and videos that would be helpful to patients. Resource toolkits combined with outreach events can be used to engage communities, disseminate information, and close gaps that have led to health care disparities.

Nevoid basal cell carcinoma syndrome: a case report and literature review.

BACKGROUND: Nevoid basal cell carcinoma syndrome (NBCCS) is a rare genetic disorder associated with basal cell carcinomas (BCC), skeletal anomalies, and jaw cysts, and a number of ocular abnormalities. We describe a case of a 12-year-old boy diagnosed with NBCCS found to have several ophthalmic manifestations including a myelinated retinal nerve fiber. We conducted a literature review targeting the ocular and systemic manifestations of NBCCS, with a focus on the ophthalmic findings that have not been well characterized. MATERIALS AND METHODS: We conducted a literature search from 1960 to 2021 utilizing specific keywords and criteria and excluded non-clinical articles. A total of 46 articles were ultimately used for the literature review. RESULTS: In NBCCS, BCCs typically present before the age of 30 and gradually become numerous. Certain ocular features, less common in the general population, are much more common with NBCCS. Depending on the study, prevalence of these features in patients with NBCCS ranges from 26-80% for hypertelorism and 7-36% for myelinated retinal nerve fiber layer. Prevalence of nystagmus in patients with NBCCS was found to be approximately 6%. Systemic findings such as bilamellar calcification of the falx cerebri, palmar pits, and odontogenic keratocysts (OKCs) are also prevalent. CONCLUSION: NBCCS may affect numerous organ systems, and thus requires a multidisciplinary team to manage. BCCs and jaw cysts are commonly occurring clinical features that have various surgical excisional options. The ocular anomalies of NBCCS are individually rare, and certain anomalies may present in the amblyogenic period of development and contribute to visual impairment.

Use of Apremilast for Aphthous Ulcers in a Patient With Behçet's Syndrome

Behçet's syndrome is an inflammatory disease characterized by aphthous oral ulcers and several systemic manifestations, which include genital ulcers, ocular disease, skin lesions, arthritis, and vascular disease

Central Centrifugal Cicatricial Alopecia: New Insights and a Call for Action.

Central centrifugal cicatricial alopecia (CCCA) is a common and progressive form of lymphocyte predominant scarring alopecia which impacts negatively on the quality of life of those affected. It is seen more commonly in women of African descent with prevalence ranging from 2.7% to 5.7%. Current postulates include genetic inheritance, with traction inducing hairstyling practices and hair chemicals as aggravating factors. Histology reveals a perifollicular lymphocytic inflammation of the lower infundibulum, premature desquamation of the inner root sheath, and fibrous connective tissue. Treatment remains challenging and is directed at suppressing and preventing the inflammation, thus aborting scarring, with surgical intervention reserved for those who have stable disease or absence of histological inflammation. Future research with more patient numbers, focusing on the genetics of CCCA may prove useful in order to fully understand the etiology, thus providing more effective treatments for CCCA.

Scanning Electron Microscopic Hair Shaft Analysis in Ectodermal Dysplasia Syndromes.

OBJECTIVES: The objective of the current study was to catalog hair shaft abnormalities in individuals with ectodermal dysplasia (ED) syndromes using scanning electron microscopy (SEM) and to compare the findings with those in unaffected controls. This is the second of a two-part study, the first of which used light microscopy as the modality and was previously published. METHODS: Scanning electron microscopy was performed in a blinded manner on hair shafts from 65 subjects with seven types of ED syndromes and 41 unaffected control subjects. Assessment was performed along the length of the shaft and in cross section. SETTING: Hair donations were collected at the 28th Annual National Family Conference held by the National Foundation for Ectodermal Dysplasia. Control subjects were recruited from a private dermatology practice and an academic children's hospital outpatient dermatology clinic. RESULTS: SEM identified various pathologic hair shaft abnormalities in each type of ED and in control patients. When hairs with all types of ED were grouped together and compared with those of control patients, the difference in the presence of small diameter and shallow and deep grooves was statistically significant (p < 0.05). When the EDs were separated according to subtype, statistically significant findings were also seen. CONCLUSION: SEM is a possible adjuvant tool in the diagnosis of ED syndromes. There are significant differences, with high specificity, between the hairs of individuals with ED and those of control subjects and between subtypes.

Light microscopic hair shaft analysis in ectodermal dysplasia syndromes.

The objective of the study was to catalog hair shaft abnormalities in individuals with ectodermal dysplasia (ED) syndromes using light microscopy and to compare findings with those in unaffected controls. Light microscopy was performed in a nonblinded manner on hair shafts from 65 participants with seven types of ED (hypohidrotic ED, ED-ectrodactyly-cleft lip or palate, ankyloblepharon-ectodermal defects-cleft lip and palate, Clouston syndrome, Goltz syndrome, Schopf-Schulz Passarge syndrome, and oculodentodigital dysplasia) and 41 unaffected controls. Hair donations were collected at the 28th Annual National Family Conference held by the National Foundation for Ectodermal Dysplasia. Control participants were recruited from a private dermatology practice and an academic children's hospital outpatient dermatology clinic. Sixty-five affected participants and 41 unaffected controls were included in the analysis. We assessed the hair shafts of ED and control participants for abnormalities visible using LM. Light microscopy identified various pathologic hair shaft abnormalities in each type of ED, although none of the findings were statistically significantly different from those of the control group. Light microscopy is a poor adjuvant tool in the diagnosis of ED syndromes. Most findings are nonspecific and not sufficiently sensitive.

Treatment of acne conglobata with modern external beam radiation.

Like other diseases of the follicular occlusion tetrad, acne conglobata can be difficult to treat. We describe the successful use of modern external beam radiation for acne conglobata in the case of a 53-year-old man with long-standing and disfiguring acne conglobata and hidradenitis suppurativa. For patients with severe acne conglobata resistant to more accepted therapies, modern external beam radiation may be a viable alternative on the therapeutic ladder.

Minocycline-induced drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome with persistent myocarditis.

Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome is a rare serious adverse effect associated with a variety of medications. We present a case of minocycline-induced DRESS syndrome, which resulted in acute renal failure, transient thyroiditis, and transaminitis, and a persistent lymphocytic myocarditis resulting in congestive heart failure. To our knowledge, this is the third reported case of minocycline-induced myocarditis. Additionally, we report successful plasmapheresis and rituximab treatment for minocycline-induced myocarditis associated with the DRESS syndrome.