Compound heterozygous ABCA12 variants identified in a Chinese patient with congenital ichthyosiform erythroderma: Advancing genotype-phenotype correlations and literature review.

BACKGROUND: Ichthyosis is a common keratotic skin disease with high clinical, etiological and genetic heterogeneity. There are four types of non-syndromic hereditary ichthyoses, among which autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of recessive Mendelian disorders. ARCI present with different phenotypes and ABCA12 pathogenic variants have been shown to cause complex ARCI phenotypes, including harlequin ichthyosis (HI), lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE). METHODS: A sporadic male patient, clinically diagnosed with CIE, was enrolled in this study. Exome sequencing was combined with Sanger sequencing to confirm the diagnosis and identify the pathogenic variants. In silico predictions were made using multiple software programs, and the identified variants were interpreted using the ACMG guidelines. A review of all literature reported ABCA12 variants was performed to explore genotype-phenotype correlations. RESULTS: Compound heterozygous ABCA12 variants [c.5381+1G>A and c.5485G>C (p.Asp1829His)] (NM_173076) were identified. The two variants were not detected in the public database. c.5381+1G>A is predicted to affect ABCA12 mRNA splicing and Asp1829 is highly conserved among various species. In silico analysis suggested that these two variants were responsible for the phenotype of the patient. Genotype-phenotype correlation analysis showed that biallelic truncation variants and/or exon/amino acid deletions in ABCA12 are the most common causes of HI. Biallelic missense variants are most common in LI and CIE. CONCLUSIONS: The compound heterozygous ABCA12 variants caused the CIE phenotype observed in the patient. The spectrum of ABCA12 pathogenic variants were broaden. Genotype-phenotype correlation analysis provided detailed evidence which can be used in future prenatal diagnosis and can inform the need for genetic counselling for patients with ABCA12-related ARCIs.

X-Linked Reticulate Pigmentary Disorder.

This case report describes a child with generalized reticulate hyperpigmentation and recurrent pneumonia, hypohidrosis, photophobia, and diarrhea.

Video education improves patients' knowledge and satisfaction in treatment of solar lentigines with picosecond 755-nm alexandrite laser: A retrospective study.

Background: Picosecond lasers are widely used in dermatologic and cosmetic practice. In clinical practice, informed consent for laser treatments is critical to ensure patients' understanding of health information. Objectives: To evaluate whether video-based informed consent improves patient comprehension and satisfaction. Methods: The study was performed from August 1 to November 30, 2022. Solar lentigines patients who fulfilled the inclusion criteria were included. Before October 1, 2022, traditional informed consent methods were performed. In the subsequent 2 months, a video-based informed consent was used as an adjunct to traditional consenting methods. Finally, patient comprehension of relevant knowledge about laser treatment and client satisfaction were assessed. Results: A total of 106 patients were included. The mean number of correct answers in the comprehension assessment in the video-based informed consent group was significantly higher than that in the traditional informed consent group (4.4 ± 1.2 vs. 3.4 ± 1.1, p < 0.001). Compared to the traditional informed consent group, more correct answers in the video-based informed consent group were provided by older patients (3.9 ± 1.2 vs. 2.9 ± 1.1, p = 0.004) and patients with lower education levels (4.1 ± 1.1 vs. 3.0 ± 1.2, p < 0.001). The mean satisfaction score in the video-based informed consent group was significantly higher than that in the traditional informed consent (27.8 ± 5.7 vs. 24.3 ± 6.2, p = 0.003). Conclusion: Video-based informed consent helps patients learn clinical literacy more effectively and improves patient satisfaction, especially in those with lower education levels and older ages.

Multiple Erythematous-Violaceous Patches and Plaques on the Left Upper Arm and Left Side of the Chest.

A woman in her late 20s had multiple, slowly growing, infiltrated erythematous-violaceous patches and plaques with occasional slight pain extending from her left upper arm to the left side of her chest. What is your diagnosis?

Genetic and phenotypic heterogeneity of multiple lentigines and precise diagnosis in four Chinese families with multiple lentigines.

Lentigines are well-defined, small, brown macules resulting from the accumulation of melanin content in the basement membrane zone with an increase in the number of melanocytes. Hereditary multiple lentigines (ML) can be associated with multiple genes and are not commonly encountered in clinical practice. Patients can solely have skin involvement or present with multisystemic deformative phenotypes. This study aimed to describe four unrelated Chinese families presenting with ML as their first visit symptom. We performed whole-exome sequencing (WES) and Sanger sequencing on all patients and immediate family members for precise molecular diagnosis. Two novel variants c.1548 T > A (p.Ser516Arg) and c.1811C > A (p.Thr604Lys) in SASH1, and two recurrent variants c.1403C > T (p.Thr468Met) and c.1493G > T (p.Arg498Leu) in PTPN11, were identified in these four families. We also summarized the genes associated with ML and differential diagnosis of pigment abnormality. We suggested that the molecular diagnosis of ML should be emphasized because it can help in the clinical differential diagnosis and further genetic counseling and prognosis.

Linear and Annular Lupus Panniculitis of the Scalp.

This case report describes hair loss in a linear pattern toward the frontal scalp, with associated erythema on left forehead.

Generalized, Linear Hyperkeratotic Papules With Numerous White Spicules and Comedo-like Plugs.

A school-aged boy presents with generalized, linear hyperkeratotic papules with numerous central small filiform keratotic white spicules and brown plugs on the head, face, neck, trunk, and bilateral upper and lower extremities. What is your diagnosis?