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Introduction:Erosive pustular dermatosis of the scalp (EPDS) is an inflammatory scalp condition that usually affects the elderly, while only few cases have been reported in childhood. In children, it may mimic fungal or bacterial infections, especially kerion. Case Presentation:We describe the usefulness of trichoscopy as a supportive diagnostic tool in 2 cases of pediatric EPDS. Discussion:Clinical distinction between EPDS and different types of alopecia in children is difficult, with a significant likelihood of diagnostic errors and delay in therapy. Trichoscopy may provide a noninvasive option that can help avoid invasive diagnostic procedures in children.

Focal facial dermal dysplasia is an inherited skin disease characterized by birth-related, scar-like, depressed skin lesions on the temples of the face. Tissue microscopic features include thinning of the inner and outer skin layers and absence of adnexal, or appending skin structures. In addition, focal facial dermal dysplasia may be accompanied by other abnormalities of the face. A case is described of an infant boy who was born with various facial abnormalities. The infant had a short neck, low-set hairline, fine hair on the forehead, a flat broad nose, thick lips with the upper lip bent, and prominent, rubbery chin. He had sparse eyebrows, puckered skin around the eyes, and no lower eyelashes; discolored, depressed scars over the temples, and abnormalities of abdominal rectus muscles. The infant's mother had similar skin lesion on the temples and similar facial features, including a low-set hairline, no lower eyelashes, a bent upper lip, and rubbery chin. Microscopic examination of the skin lesion on the mother's temple reveled thinning of the skin layers, absence of skin appendages, and little elastic tissue in the inner skin layer. The genetic aspects of focal facial dermal dysplasia are discussed. (Consumer Summary produced by Reliance Medical Information, Inc.)

ABSTRACTIntroduction: neonatal and infantile skin diseases are frequently encountered in the clinical practice and represent worldwide a socioeconomic issue. They encompass a wide range of acquired or congenital conditions, including infections, vascular lesions and inflammatory diseases and can present with different degrees of severity, leading in some cases to dramatic complications.Areas covered: In this paper we report the most recent evidences on the management of some common skin diseases in neonates and infants. Hemangiomas, viral, fungal and bacterial infections, omphalitis, atopic and seborrhoeic dermatitis, napkin disease will be treated and discussed.Expert opinion: The majority of the dermatologic alterations in neonates are physiological, transient and do not require any treatment, thus the parents can be reassured about the good prognosis. However, in some cases, serious conditions must be excluded. In particular neonatal and infantile infections should be promptly recognized and properly managed, to avoid severe complications. The therapeutic options include traditional and, although few, innovative medical treatments, which will be carefully taken into consideration by the expert Dermatologists and Paediatricians.

A neonate presented to our clinic for evaluation of unusual congenital cleft lip. The clinical follow-up showed at first an ulceration of the lesion and then a stable result after propanolol systemic therapy. After 18 months of clinical follow-up, surgical treatment was performed, which consisted of double unilimb Z-plasty according to Mulliken's microform cleft lip repair. Knowing the existence of these strange vascular anomalies of the lip will allow us to improve the differential diagnosis and treatment plan.

Bullous pemphigoid is rare in children and even rarer in infants. By presenting two cases of bullous pemphigoid related by their temporal proximity with a previous episode of vaccination, it will be carefully discussed if a relationship is or is not possible. Our final conclusion is that the association is mostly a myth rather than a reality and bullous pemphigoid is not a contraindication to continue with the normal vaccination schedule of infants. It is important to know about this clinical entity in order to perform adequate treatment that avoids any worsening or future relapse of this disease.

A 10-year-old boy presented with a three-year history of recurrent lesions on photoexposed areas that worsened each summer. The boy had no family history of photosensitivity. Some vesicles and tiny [...]

This geoepidemiological study, performed in Italy and France, shows that Erdheim-Chester disease is increasingly diagnosed and cases cluster in specific geographic areas, namely southern Italy and central France. Disease frequency inversely correlates with the Human Development Index.

AbstractPurpose of the Study:Our aim was to perform an extensive search of the literature on the prevalence of nail psoriasis in the pediatric population and to estimate it on our own database. Procedures:Searching the most important databases yielded results of 16 papers published in a 40-year period which reported the prevalence of nail psoriasis in children. Furthermore, data gathered between 2004 and 2013 at two centers specialized in nail disorders were analyzed. Results: The selected papers encompassed a total of 4,853 psoriatic children, of whom 762 (15.7) had nail involvement. Concerning our data, a total of 68,839 children were seen in pediatric skin consultation in both clinics over a period of 10 years, 0.11 of which had nail involvement. The rate of psoriatic children presenting nail alterations was 19.4 in the Greek and 15.5 in the Italian patient groups. Conclusions and Message:This is the retrospective study including the largest number of cases of nail psoriasis in the pediatric population. Our data are in line with the incidence estimation of the rest of Europe.© 2015 S. Karger AG, Basel

Two brothers were referred to our clinic for reevaluation of neurofibromatosis type 1 (NF1). Both brothers presented a peculiarity that is not so common in NF1: poliosis overlying plexiform neurofibromas on the scalp. Poliosis overlying plexiform neurofibromas is rarely reported in the literature. The peculiarity of our cases is the familiarity and the presence of poliosis in the same location.

Primary cutaneous lymphomas (PCLs) are a group of lymphoid neoplasms provided with heterogeneous clinical, histological, immunohistochemical and molecular features. They can be classified in two groups: cutaneous T-cell lymphomas (CTCLs) and cutaneous B-cell lymphomas (CBCLs). Recent studies show an increase of the incidence of PCLs over the last three decades. Our aim is to evaluate the commonest types of PCL analysing the clinical characteristics, histology, phenotype, molecular biology, prognosis and therapy.

Background:Histiocytoses represent a large, puzzling group of diseases which may involve the skin and other organs. At present, juvenile xanthogranuloma is the disorder most often confused with Langerhans cell histiocytosis. A complex overlap exists between juvenile xanthogranuloma and Langerhans cell histiocytosis, with lesions showing clinical and/or pathological features of both disorders. Observations:We report 2 patients affected by Langerhans cell histiocytosis who, during chemotherapy, presented cutaneous lesions with clinical and histological features of juvenile xanthogranuloma. During the therapy, in both cases, histological examination of new biopsies revealed the presence of Touton giant cells in the dermis with a few histiocytic cells; immunohistochemical staining was negative for CD1a, and no Birbeck granules were seen by ultrastructural examination. Results and Conclusion:A possible explanation for the link between Langerhans cell histiocytosis and juvenile xanthogranuloma regards the lineage development and the relationships of histiocytes. We suggest that chemotherapy can modify the production of cytokines by influencing the conversion or ‘maturation’ of pathological cells into macrophages or xanthomatous cells and fusing them to form multinucleated giant Touton cells. In our opinion, the modification of the cutaneous lesions during chemotherapy in Langerhans cell histiocytosis patients, as observed in our cases, could be a favorable prognostic factor.

Extravasation injury (EI) is an iatrogenic condition that occurs preferentially in neonatal and pediatric patients when the injection of fluid substances by intravenous access is required and it accidentally leaks into the adjacent tissues or in spaces outside of vascular compartment. Different types and amount of substances once undergoing extravasation can affect the EI differently [1]. In some instances immediate measures such as saline washout, local antidotes, enzymatic debridement and surgical interventions can be required in order to prevent the occurrence of a growing injury avoiding the progression of the EI to a medical emergency [6]. Here we report an unusual case of a preterm 2-month-old male patient in which the extravasation of balanced electrolyte solution on the upper right arm resulted in the development of full-thickness skin necrosis appearing as the clinical condition of necrotizing fasciitis. The management of necrotic tissue was performed using escharectomy as well as autograft skin under conditions of general anesthesia.

IMPORTANCE: Differential diagnosis between congenital Volkmann ischemic contracture (CVIC) and unilateral aplasia cutis congenita (ACC) type VII of the forearm presents a clinical challenge. Both diseases share the same clinical presentation characterized by a stellate ulceration over the upper extremities and reported association with neuromuscular defects, but the diagnostic criteria to differentiate these 2 entities remain unclear. OBSERVATIONS: A newborn girl presented with an ulceration of the left forearm associated with an apparent neurological impairment. On the basis of the suspected neurological involvement, a diagnosis of CVIC was initially considered, but because the neurological evaluation excluded paralysis, our final diagnosis was ACC type VII. CONCLUSIONS AND RELEVANCE: In our opinion, CVIC should be considered a particular form of ACC in which an external noxa affects the forearm, increasing the intracompartmental pressure and leading to muscle and nerve ischemia. Therefore, we propose that the definition of Volkmann ischemic contracture should be maintained only for the acquired forms with an evident etiology and that Frieden’s classification scheme for ACC type VII needs to be reformulated.

We read with interest the article by Rapelanoro and coworkers1 on neonatal Malassezia furfur pustulosis (NMFP), which appeared in the February 1996 issue of the Archives. We have recently had the opportunity to observe 2 cases of this same disease. REPORT OF CASES. CASE 1. In January 1995, a 23-day-old infant was referred to us by the Department of Pediatrics of our university (Università degli Studi di Bologna, Bologna, Italy) for evaluation of a pustular eruption. At the time of our observation, the infant presented with a pustular eruption of the forehead, the upper and lower right eyelid, the nose, and the chin. The pustules were surrounded by an erythematous halo and had been observed since the first week of life; occasional papules were seen in the same area (Figure 1). The infant was otherwise healthy. A sample for assessment of cutaneous microflora obtained from pustules produced negative results

This case concerns a premature infant with typical signs of congenital syphilis born to an untreated foreign mother. Syphilis prevalence in pregnant women has been rising in Italy since the beginning of the 21st century, mainly due to immigration. A correct antenatal syphilis screening and consequent adequate therapy of pregnant woman are fundamental to prevent the neonatal infection.

Mastocytosis is a rare disease characterized by an abnormal proliferation and accumulation of mast cells (MC) in several organs and tissues such as skin, bone marrow, liver, gastrointestinal tract and lymphnodes. The reported prevalence of mastocytosis (cutaneous or systemic) is lower than 1/50,000. Mastocytosis encompasses a wide range of clinical entities, extremely heterogeneous for symptoms, clinical course and prognosis. The heterogeneity and the complexity of its clinical signs lead to the definition of mastocytosis as a multidisciplinary pathology, involving different specialists such as hematologists, internists, dermatologists, immunologists and pediatricians. Mastocytosis is a MC clonal disease associated to a somatic mutation (D816V) of the proto-oncogene c-kit (KIT), which codifies for the stem cell factor (SCF) receptor. SFC is the main factor stimulating the proliferation, chemotaxis and activation of human mast cells. Different KIT mutations have been found in 15% of patients. Clinical signs and symptoms of mastocytosis mainly depend on the liberation of chemical mediators produced by the mast cells, on the tissue infiltration of the mast cells and on other associated hematological diseases. Aim of the Registry: promoting studies on mastocytosis in Italy aimed at investigating the epidemiology of the disease, its prognostic factors and health technology assessment (HTA) aspects associated to the management of a rare “orphan” disease.The Italian Mastocytosis Registry was constituted in 2009, with the aim of promoting communication between specialists and collecting data about patients diagnosed with mastocytosis at a national level. Anagraphical, anamnestic, clinical, biological, treatment and follow-up data of patients with mastocytosis are being routinely collected in 15 Italian centers after written informed consent. An on-line database (www.registroitalianomastocitosi.it) has been set up for this purpose. The collected data will allow specialists to:At present, data on 175 patients have been collected. Seventy-nine (45%) have been diagnosed with systemic mastocytosis and 40 (50%) of them progressed from a cutaneous disease. Ninety-four (54%) are females; 81 (46%) are males. Among 49 patients for whom data on familiarity were available, 12 (24%) reported familiar cases of autoimmune diseases (n=3), allergies (n=5) or interestingly mastocytosis (n=4). Sixty-one (35%) patients reported allergies. Of 121 reported lines of therapy, 37 (31%) were described as not specified anti chemical mediators, 51 (42%) anti-H1, 21 (17%) anti-H2, 30 (25%) corticosteroids, 22 (18%) phototherapy, 7 (6%) alpha-interpheron, 8 (7%) chemotherapy and 13 (11%) tyrosine-kinase inhibitors (total exceeds 100% because multiple choice is allowed). As to the histological findings, 82 (47%) patients have data on bone marrow biopsy: 48 (59%) had a positive finding, with a median mast cells infiltrate of 30% (range 3–90%). Among 43 patients tested for tryptase serum level, 41 (95%) had levels above normal values (12.5 ng/ml).This is the first spontaneous observational study on mastocytosis in Italy. The on-line database is a useful tool for data collection at a national level. The Registry is an opportunity to carry out epidemiological studies aimed at estimating occurrence and geographical distribution of the disease. It will also allow specialists to investigate possible prognostic factors and provide a starting point for the research into ad hoc therapies and HTA studies. It will hopefully provide a link with other international registries to improve understanding of this disease. Last but not least, the Italian Registry may support a National Government policy to provide assistance by the Public Health System to patients with mastocytosis.No relevant conflicts of interest to declare.

In a recent, interesting article, Miller and Yeager1 report a sporadic case of hypertrichosis cubiti. In their article, they present the main features of the syndrome, based on this case and the 11 cases reported in the literature.In 1992, we reported on two familial groups in which five patients presented with hairy elbows.2 The proband of family 1 was a 7-year-old boy who had had long, dark, coarse hair on both elbows since infancy. His father also had hairy elbows, but had observed a partial resolution of the hypertrichosis with age. Both patients were of short stature. No other abnormalities were present. The proband of family 2 was a 10-year-old girl who had diabetes mellitus. Her mother and aunt also had hairy elbows that showed partial resolution with age. Accordingly, hypertrichosis was noticeable only in the probands who were referred to us for other reasons, ie, psoriasis