The Keloid Area and Severity Index (KASI): an objective tool for the evaluation of keloids.

To aid in the standardization of evaluating patients with multiple keloids, a Keloid Area and Severity Index (KASI) was developed using patient feedback, previous literature, and clinical expertise. The system was validated using intrarater and interrater reliability assessments. Here, we present a verified, reliable method of assessing keloid area and severity in clinical and research settings.

Biallelic variants in RNU12 cause CDAGS syndrome.

CDAGS Syndrome is a rare congenital disorder characterized by Craniosynostosis, Delayed closure of the fontanelles, cranial defects, clavicular hypoplasia, Anal and Genitourinary malformations, and Skin manifestations. We performed whole exome and Sanger sequencing to identify the underlying molecular cause in five patients with CDAGS syndrome from four distinct families. Whole exome sequencing revealed biallelic rare variants that disrupt highly conserved nucleotides within the RNU12 gene. RNU12 encodes a small nuclear RNA that is a component of the minor spliceosome and is essential for minor intron splicing. Targeted sequencing confirmed allele segregation within the four families. All five patients shared the same rare mutation NC_000022.10:g.43011402C>T, which alters a highly conserved nucleotide within the precursor U12 snRNA 3' extension. Each of them also carried a rare variant on the other allele that either disrupts the secondary structure or the Sm binding site of the RNU12 snRNA. Whole transcriptome sequencing analysis of lymphoblastoid cells identified 120 differentially expressed genes, and differential alternative splicing analysis indicated there was an enrichment of alternative splicing events in the patient. These findings provide evidence of the involvement of RNU12 in craniosynostosis, anal and genitourinary patterning, and cutaneous disease.

A severe presentation of acute generalized exanthematous pustulosis with non-infectious circulatory shock in an adolescent.

We present a severe case of acute generalized exanthematous pustulosis (AGEP) secondary to trimethoprim-sulfamethoxazole complicated by non-infectious circulatory shock in a 16-year-old boy. Hemodynamic instability has been reported as a complication of AGEP in adults, but is rarely observed in pediatric patients. The patient we present demonstrated characteristic cutaneous findings of AGEP including isolated non-follicular, sterile pustules on a background of erythema with involvement at intertriginous areas and subsequently developed non-infectious circulatory shock. This case expands the spectrum of possible clinical presentations for AGEP in pediatric patients.

Current Understanding of the Genetic Causes of Keloid Formation.

Keloids are an exuberant response to cutaneous wound healing. Several lines of evidence suggest that keloid scarring is influenced by genetic factors. This review will discuss our current understanding of genetic influences on keloidal scarring via familial inheritance patterns; ethnic differences in prevalence; syndromes with keloid occurrence; linkage analysis, genome-wide association studies, and admixture mapping studies; transforming growth factor beta and p53 variant studies; and human leukocyte antigen polymorphisms.

Primary milia localized to the vulva.

Multiple primary milia were found on the vulva of a 52-year-old woman who was referred to the dermatology clinic by her gynecologist. These lesions are commonly distributed on the face and rarely occur in this location without antecedent trauma. This report demonstrates the unique presentation of primary milia in the genital region and explores the diagnostic features and treatment methods of these lesions.

A retrospective study on the association of keloids with underlying health conditions in African-American Women.

Keloids are disfiguring benign scars that develop due to an exaggerated response to cutaneous wound healing, growing beyond the boundaries of the cutaneous insult into normal, previously uninvolved skin. The association of keloids with other underlying health conditions has been postulated, but not well characterized. Objective: This study aims to identify whether there is any association of keloids with underlying health conditions in African-American women. Methods: This study was done via the use of the National Inpatient Sample, a subset of the Healthcare Cost and Utilization Project. African-American women with keloids who had undergone cesarean sections were compared with a control group of African-American women with no history of keloids who had undergone cesarean sections. Results: A total of 301 African-American inpatient encounters with patients with keloids were compared with 37,144 encounters in the control group. The keloid patients had an increased association with peritoneal adhesions compared with the control group. Limitations: results are limited to one race and restricted age range; also, unable to differentiate keloids from hypetrophic scarring with ICD-10 codes. Conclusion: These findings suggest that keloids and peritoneal adhesions may have similar inflammatory processes.

Keloids and Hypertrophic Scars.

Keloids are an exuberant response to skin wound healing in which abundant scar tissue grows beyond the boundaries of the inciting insult. Age, race, location, family history and personal history of keloids are relevant factors concerning the risk of developing keloids. Because keloids are prone to recurrence after surgical excision, post-operative management plays an important role in the treatment of keloids. There are many modalities that can be used to treat keloids or prevent their recurrence; a multimodal approach is often necessary in difficult cases.

Punctate Palmoplantar Keratoderma: A Case Report.

Palmoplantar keratoderma (PPK) is an umbrella term for a group of heterogeneous disorders, acquired or inherited, that are characterized by hyperkeratosis of palmar and/or plantar surfaces. Punctate PPK (PPPK) has been shown to have an autosomal dominant pattern of inheritance. It is linked with two loci on chromosomes 8q24.13-8q24.21 and 15q22-15q24. In type 1 PPPK, also known as Buschke-Fischer-Brauer disease, loss-of-function mutations in either the AAGAB or the COL14A1 genes have been associated with the disorder. We report here the clinical and genetic features of a patient with findings most consistent with type 1 PPPK.