Midline anterior neck inclusion cyst: A novel superficial congenital developmental anomaly of the neck.

Background/objectives: A variety of congenital developmental anomalies arise on the neck because of the many fusion planes and complex embryologic structures in this region. We describe a series of seven patients with a novel type of superficial midline congenital anomaly.

Methods: Retrospective case series.

Presumed ocular juvenile xanthogranuloma and biopsy-proven cutaneous mastocytosis occurring sequentially in a young boy.

Juvenile xanthogranuloma is a benign non-Langerhans cell histiocytosis characterized by skin lesions that tend to be self-limited. Ocular lesions can occur in juvenile xanthogranuloma, most commonly presenting as an iris granuloma. Skin lesions of juvenile xanthogranuloma may appear similar to lesions of mastocytosis.

Epidermolysis bullosa simplex with mottled pigmentation due to a rare keratin 5 mutation: cutaneous findings in infancy.

Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is an autosomal dominant inherited blistering skin disease characterized by nonscarring blistering and reticulated hyperpigmentation. It is most commonly due to a heterozygous point mutation, P25L, in the nonhelical V1 domain of keratin 5 (KRT5). Here we present a case of EBS-MP with early onset of reticulated hyperpigmentation during infancy due to a rare 1649delG mutation in the V2 domain of KRT5.

Solitary mastocytoma of the eyelid.

Mastocytosis is a heterogeneous group of diseases characterized by the proliferation and abnormal infiltration of mast cells in tissue. These collections of mast cells are called mastocytomas. Solitary mastocytomas are cutaneous lesions, most commonly involving the extremities and trunk.

Patient characteristics of neonatal eosinophilic pustulosis.

A 10-week old preterm infant boy presented with a pustular eruption of the face and blood eosinophilia. Histology demonstrated eosinophils without predominant follicular involvement. The lesions healed without intervention within 2 months.

"Eczema coxsackium" and unusual cutaneous findings in an enterovirus outbreak.

Objective: To characterize the atypical cutaneous presentations in the coxsackievirus A6 (CVA6)-associated North American enterovirus outbreak of 2011-2012.

Methods: We performed a retrospective case series of pediatric patients who presented with atypical cases of hand, foot, and mouth disease (HFMD) from July 2011 to June 2012 at 7 academic pediatric dermatology centers. Patients were included if they tested positive for CVA6 or if they met clinical criteria for atypical HFMD (an enanthem or exanthem characteristic of HFMD with unusual morphology or extent of cutaneous findings).

Papular epidermal nevus with "skyline" basal cell layer (PENS).

Background: Several types of epidermal keratinocytic nevus are recognized.

Objective: We sought to describe a previously unreported keratinocytic nevus with distinctive clinical and histopathologic features in 5 patients.

Methods: We performed a clinical and photographic review, and obtained skin biopsy samples for histopathologic examination from each patient.

Autosomal recessive woolly hair with hypotrichosis caused by a novel homozygous mutation in the P2RY5 gene.

During the last decade, several causative genes for hereditary hair diseases have been identified, which have disclosed the molecular mechanisms involved in hair follicle morphogenesis and cycling. We and others recently reported that mutations in the P2RY5 gene, encoding an orphan G protein-coupled receptor, underlie autosomal recessive woolly hair (WH)/hypotrichosis. Although these findings clearly reveal the involvement of P2RY5 mutations in hereditary hair diseases, the clinical manifestations of P2RY5 mutations have not completely been elucidated because of limited information to date.

Acquired zinc deficiency in full-term newborns from decreased zinc content in breast milk.

Zinc deficiency occurs in children when the demand for zinc exceeds its supply. Malnutrition, prematurity, total parenteral nutrition dependence, and burns increase the demand for zinc, whereas congenital malabsorption syndromes represent clinical situations where less zinc is supplied to the growing child. Clinical recognition of acral eczematous lesions, alopecia, and gastrointestinal tract symptoms in settings of the aforementioned medical history often lead to the diagnosis.

The clonal nature of pityriasis lichenoides.

Background: Pityriasis lichenoides et varioliformis acuta (PLEVA) and pityriasis lichenoides chronica (PLC) are benign lymphocytic infiltrates of the skin that classically present as either a recurrent papulonecrotic eruption (PLEVA) or a persistent, scaling, papular eruption (PLC). Observations of both types of lesions present on individual patients have led to speculation that both entities are related. Previous studies evaluating the DNA of biopsy specimens from patients with PLEVA and PLC revealed clonal T-cell receptor beta gene rearrangements.

Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome.

The constitutive desmosomal plaque protein desmoplakin plays a vital part in keratinocyte adhesion in linking the transmembranous desmosomal cadherins to the cytoplasmic keratin filament network. Recently, mutations in desmoplakin have been shown to underlie some cases of the autosomal dominant disorder, striate palmoplantar keratoderma, as well as an autosomal recessive condition characterized by dilated cardiomyopathy, woolly hair, and keratoderma. Here, we describe two unrelated individuals with a new autosomal recessive genodermatosis characterized by focal and diffuse palmoplantar keratoderma, hyperkeratotic plaques on the trunk and limbs, varying degrees of alopecia, but no apparent cardiac anomalies.