Inherited ichthyosis as a paradigm of rare skin disorders: Genomic medicine, pathogenesis, and management.

Great advances have been made in the field of heritable skin disorders using next-generation sequencing (NGS) technologies (ie, whole-genome sequencing, whole-exome sequencing, whole-transcriptome sequencing, and disease-targeted multigene panels). When NGS first became available, the cost and lack of access to these technologies were limiting factors; however, with decreasing sequencing costs and the expanding knowledge base of genetic skin diseases, fundamental awareness of NGS has become prudent. The heritable ichthyoses comprise a genotypically and phenotypically heterogeneous group of monogenic keratinization disorders characterized by persistent scaling, with at least 55 distinct genes currently implicated in causing nonsyndromic and syndromic forms of the disease. By providing a simplified overview of available NGS techniques and applying them in the context of ichthyosis, one of the most common genodermatoses, we hope to encourage dermatologists to offer, when appropriate, genetic testing earlier in patients with unsolved presentations. With the aid of NGS, dermatologists can provide diagnostic certainty in cases of suspected genodermatoses and offer potentially life-changing genome-guided and targeted therapies as they become available.

What's new in pediatric dermatology?: part I. Diagnosis and pathogenesis.

The field of pediatric dermatology has been rich in new developments. Part I of this continuing medical education article will focus on new diagnoses and new insights into the etiology and pathogenesis of pediatric skin disorders. Insights into the pathogenesis of atopic dermatitis, new forms of contact dermatitis, recently recognized mimickers of port wine stains, associations with infantile hemangiomas, the concept of genetic diseases being classified by common pathways (RASopathies), newly recognized genetic discoveries in mosaic disorders, the recognition of cystic fibrosis being associated with aquagenic wrinkling of the palms, new forms of epidermolysis bullosa, and genital ulcers in non-sexually active adolescent girls will be discussed.

What's new in pediatric dermatology?: part II. Treatment.

The field of pediatric dermatology has been rich in new developments. Part II of this continuing medical education article will focus on new therapeutic modalities for several entities encountered in pediatric dermatology. The treatment of atopic dermatitis, exciting advances in the use of propranolol and other beta-blockers for the use of infantile hemangiomas, the use of rapamycin for vascular anomalies, the use of biologics in children, the central nervous system risks of general anesthesia in young children, side effects in the use of isotretinoin, the treatment of tinea capitis, treatment of herpes simplex infections, and the use of technologies such as texting and social media in medicine will be discussed.

Novel MBTPS2 missense mutation in the N-terminus transmembrane domain in a patient with ichthyosis follicularis, alopecia, and photophobia syndrome.

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is an X-linked dominant condition characterized by the triad of ichthyosis follicularis, alopecia, and photophobia caused by mutations in the MBTPS2 gene. Herein we describe a proband with IFAP syndrome with mild cutaneous manifestations and a novel MBTPS2 mutation in the N-terminal transmembrane domain.

Eccrine angiomatous hamartoma.

Four patients with eccrine angiomatous hamartoma are described. Blue-purple color, enlarging size, location on an extremity, pain, and hypertrichosis were common features and aided differentiation from other vascular anomalies and hamartomas of childhood. None of our patients experienced lesional hyperhidrosis, and simple excision alleviated pain.