Unusually Large Patch-Type Noninvoluting Congenital Hemangioma of the Shoulder: A Report of Two Cases.

Noninvoluting congenital hemangiomas (NICHs) are vascular tumors that are fully formed at birth and do not regress. Clinically, NICHs persist indefinitely over time. Histologically they are characterized by deep dermal lobules of small vessels with endothelial cells that do not stain with glucose transporter 1 (GLUT1). Two similar cases of unusually large, patch-type NICHs of the shoulder in neonates were observed in the past 20 years in two pediatric dermatology units in Italy. In both cases, histopathology showed lobular collections of small vessels that did not stain with GLUT1. The clinical features of the two cases remained unchanged over a follow-up period of 10 and 4 years, respectively. The large size and flat appearance of the lesions could be due to their early onset during embryogenesis.

A novel de novo missense mutation in TP63 underlying germline mosaicism in AEC syndrome: implications for recurrence risk and prenatal diagnosis.

Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a rare autosomal dominant ectodermal dysplasia syndrome. It is caused by heterozygous mutations in TP63, encoding a transcriptional factor of the p53 family. Mutations in TP63, mainly missense in exons 13 and 14 encoding the sterile alpha motif (SAM) and the transactivation inhibitory (TI) domains, account for 99% of mutations in individuals with AEC syndrome. Of these, ≥70% are de novo mutations, present in the affected patient, but not in parents nor in healthy siblings. However, when a mutation appears de novo, it is not possible to differentiate between a sporadic mutation, or germline mosaicism in the parents. In this latter case, there is a risk of having additional affected offspring. We describe two sisters with AEC syndrome, whose parents were unaffected. Both patients carried the heterozygous c.1568T>C substitution in exon 13 of TP63, resulting in a p.L523P change in the SAM domain of the protein. Analyses of DNA from parental blood cells, seminal fluid (from the father) and maternal cells (buccal, vaginal, and cervical) did not reveal the mutation, suggesting that the mosaicism may involve a very low percentage of cells (very low grade somatic mosaicism) or, more likely, maternal gonadal mosaicism. Mosaicism must be considered for the assessment of recurrence risk during genetic counseling in AEC syndrome, and pre-implantation/prenatal genetic diagnosis should be offered to all couples, even when the mutation is apparently de novo.

Natural evolution of Spitz nevi.

BACKGROUND: The natural evolution of melanocytic nevi is a complex, multifactorial process that can be studied by monitoring nevi on a long-term basis. METHODS: To assess the evolution pathway of Spitz nevi, lesions with clinical and dermoscopic features suggestive of Spitz nevi were monitored and baseline and follow-up images compared. RESULTS: Sixty-four patients (mean age 10.4 years) with lesions suggestive of Spitz nevi were included. Lesions were monitored for a mean follow-up period of 25 months. Upon side-by-side evaluation of baseline and follow-up images, 51 (79.7%) lesions showed an involution pattern and 13 (20.3%) lesions showed a growing or stable pattern. No significant differences were found between growing and involving lesions in terms of patient age and sex and the location and palpability of lesions. The great majority of growing lesions were pigmented or partially pigmented (92.3%), whereas 47.1% of lesions in involution were amelanotic (p = 0.005). CONCLUSION: In this series of lesions clinically and dermoscopically diagnosed as Spitz nevi, spontaneous involution seems to be the most common biologic behavior.

Inflammatory Skin Lesions in Three SARS-CoV-2 Swab-Negative Adolescents: A Possible COVID-19 Sneaky Manifestation?

Coronavirus disease 19 (COVID-19), caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), is associated with various clinical manifestations, including skin lesions. In particular, during the COVID-19 pandemic lock-down period numerous chilblain-like lesions, mainly located on the feet, were observed in adolescents. The latter were often asymptomatic or associated with very mild respiratory symptoms. Here, we report three cases of acral nodular lesions in SARS-CoV-2 swab-negative adolescents with histological findings of chronic immune-mediated inflammation and immunohistochemical evidence of SARS-CoV-2 spike glycoproteins in endothelial cells and eccrine sweat glands. In one of these cases, the virus presence was confirmed by electron microscopy.

Severe hypoglycemia during successful treatment of diffuse hemangiomatosis with propranolol.

A 27-day-old male infant with diffuse hemangiomatosis of the skin and liver was treated with oral propranolol at a dosage of 2 mg/kg per day. Five months later skin and liver hemangiomas regressed almost completely. After 160 days of onset of propranolol, the patient presented with seizures on waking up. Laboratory examinations showed blood glucose of 15 mmol (n.v. 50-110) and increased ketone bodies. Propranolol was recommenced at a lower dosage the day after the crisis and then withdrawn when the baby was aged ten months. Hypoglycemia is the most frequent and insidious side effect of propranolol, mainly occurring in circumstances with diminished oral intake. Although the risk appears small, increased vigilance for hypoglycemia in children on chronic propranolol treatment who have decreased caloric intake for any reason seems prudent.

Psychiatric symptoms and quality of life in patients affected by epidermolysis bullosa.

The aim of our study was to provide a psychosocial and psychiatric evaluation of patients with epidermolysis bullosa (EB; a rare genetic disorder characterized by skin fragility), to assess psychological status, ascertain the presence of any psychiatric disorders and understand the impact of EB on quality of life. Twenty-five patients were assessed using a case record form and several standardized instruments. In 82% of patients, EB had a negative impact on quality of life and 80% of patients experienced psychiatric symptoms. Our findings revealed a high prevalence of psychosocial problems and psychiatric symptoms in patients with EB and suggested that a combined bio-psychosocial approach is the most appropriate therapeutic intervention.

Incomplete development of the nail of the hallux in the newborn.

Between March and October 2008, the nails of 541 (252 females, 289 males) consecutively born neonates with an average age of 3.2 days were examined in the Neonatology Unit. Of these newborns with nail disorders, 36 were re-examined after a period that ranged from seven days to six months. The most frequent nail alteration was the incomplete development of the hallux nail, which was triangular - sometimes trapezoidal - shaped. This alteration, which had been previously reported in the literature as congenital hypertrophy of the lateral folds of the hallux, spontaneously regressed within one to three months in the infants re-examined. There was no associated inflammation or onychocryptosis at any time. The apparent hypertrophy of the nail folds seemed to be secondary to the lack of pressure of the nail lamina.

End-stage renal disease secondary to IgA nephropathy in recessive dystrophic epidermolysis bullosa: a case report.

Epidermolysis bullosa (EB) consists of a group of dominant or recessive autosomal diseases characterised by skin and mucosa fragility. The lesions leave erosions and scars that, in turn, can cause stenosis of tracheal, oesophageal, and genitourinary tract mucosae. The significantly increased survival of EB patients has determined the onset of complications never observed before, including genitourinary disorders such as hydroureteronephrosis, recurrent urinary tract infections, renal amyloidosis, IgA nephropathy and post-infectious glomerulonephritis. A 6-year-old boy diagnosed with recessive dystrophic EB Hallopeau-Siemens type (RDEB-HS) was referred to our clinic because of microhaematuria that evolved into intra-infectious macrohaematuria. Renal biopsy revealed an increase in both extracellular matrix and mesangial cells, with a focal segmental glomerulosclerosis with severe chronic tubulointerstitial damage. Immunofluorescence showed IgA mesangium deposits. Five years later, he was started on haemodialysis, because of worsening renal function. This is a rare case of a child with EB who was successfully treated with haemodialysis. The pertinent literature has been reviewed.