Michele Callea

IRCCS Ospedale Infantile Burlo Garofolo | Ospedale Burlo · Pediatric Stomatology

The term ectodermal dysplasias (EDs) describes a heterogeneous group of inherited developmental disorders that affect several tissues of ectodermal origin. The most common form of EDs is hypohidrotic ectodermal dysplasia (HED), which is characterized by hypodontia, hypotrichosis, and partial or total eccrine sweat gland deficiency. HED is estimated...

Phelan–McDermid syndrome (PMS) is a rare, heterogeneous, and complex neurodevelopmental disorder. It is generally caused by a heterozygous microdeletion of contiguous genes located in the distal portion of the long arm of chromosome 22, including the SHANK3 gene. Sequence variants of SHANK3, including frameshift, nonsense mutations, small indels an...

Dyskeratosis congenital (DC) is the first genetic syndrome described among telomeropathies. Its classical phenotype is characterized by the mucocutaneous triad of reticulated pigmentation of skin lace, nail dystrophy and oral leukoplakia. The clinical presentation, however, is heterogeneous and serious clinical complications include bone marrow fai...

Marfan syndrome ([MS], OMIM 154700) is a connective tissue disorder that exhibits an autosomal dominant pattern of inheritance, whose clinical characteristics can affect multiple systems or organs in a variable way. It is caused by mutations in the FBN1 gene (OMIM 134797) located at 15q21.1. Neonatal MS is an uncommon variety of the entity associat...

Patients with special needs (SNPs) include individuals who are disabled due to physical limitations, medical complications, developmental problems, and cognitive impairments. SNPs may be at an increased risk of oral diseases throughout their lifetime. These patients have difficulties in accessing traditional dental studios or clinics. Moreover, oro...

Spondylometaphyseal dysplasia Algerian type (MIM no.: 184253) is an uncommon autosomal dominant skeletal dysplasia caused by heterozygous mutations in the COL2A1 gene (MIM no.: 120140). In this case based review, we reported a 5-year-old boy with short stature, severe dorsolumbar scoliosis, lumbar hyperlordosis, short trunk, and severe genu valgum....

Ectodermal dysplasia-syndactyly syndrome 1 (EDSS1) is characterized by cutaneous syndactyly of the toes and fingers and abnormalities of the hair and teeth, variably associated with nail dystrophy and palmoplantar keratoderma (PPK). EDSS1 is caused by biallelic mutations in the NECTIN4 gene, encoding the adherens junction component nectin-4. Nine E...

Background: Aplasia cutis congenita (ACC) is a rare congenital condition characterized by the absence of skin layers and sometimes other underlying structures, in a localized or widespread area. The exact etiopathogenesis is not yet completely understood. Membranous ACC (MACC) also described as bullous or cystic ACC is a clinical subtype of ACC, c...

Keratitis‐ichthyosis‐deafness (KID syndrome) is a syndromes ichthyoses that is clinically and genetically heterogeneous requiring early and long‐term multidisciplinary monitoring of affected individuals. A review of the clinical, etiopathogenic and therapeutic aspects is presented of this rare congenital ectodermal disorder. This article is protect...

Acute myeloid leukemia (AML) is a heterogeneous group of diseases, whose classification is based on lineage-commitment and genetics. Although rare in childhood, it is the most common type of acute leukemia in adults, accounting for 80% of all cases in this age group. The prognosis of this disease remains poor (especially in childhood, as compared t...

The outbreak of severe pneumonia due to the new SARS‐CoV‐2 has created a world emergency that is putting global public health institutions at high alert. Since the first official paper on January 20 up to now more than 10.000 publications have appeared on PubMed. Surprisingly, no single paper has been dealing with the potential impact of the COVID‐...

Silver-Russell syndrome is characterized by asymmetrical intrauterine growth retardation, with normal head circumference and small, pointed chin, which results in a triangular face. It can also include body asymmetry, among other characteristics. Its global incidence is estimated at 1 in 30 000-100 000 births, even though this figure may be underes...

Pierquin syndrome is a rare genetic entity characterized by the association of Dandy–Walker malformation and postaxial polydactyly. The incidence is uncertain with only six cases previously reported in the literature. In this study, we reported a new case of Pierquin syndrome born from consanguineous parents, characterized by Dandy–Walker malformat...

La disqueratosis congénita corresponde la primera entidad genética descrita entre las telomeropatías, cuya forma clásica se caracteriza por presentar la tríada mucocutánea de pigmentación reticulada de encaje en piel, distrofia ungueal y leucoplasia oral. Puede cursar además con insuficiencia de la médula ósea, tumores hematológicos y sólidos que c...

Propionic acidemia is an infrequent disorder with an autosomal recessive inheritance pattern caused by the deficiency of the mitochondrial enzyme propionyl-CoA carboxylase that converts propionyl-CoA to D-methylmalonyl-CoA. We present the case of a male newborn who showed signs of respiratory distress, vomiting and tiredness during feeding. He pres...

Schmid-type metaphyseal chondrodysplasia (MIM 156500) is an uncommon autosomal dominant skeletal dysplasia caused by heterozygous mutations in the COL10A1 gene (MIM 120110) encoding the α1(X) chains of type X collagen. We report an 8-year-old girl with waddling gait, short stature, mild dorsal scoliosis, coxa vara, short lower limbs, bowing of the...

Background: Craniosynostosis is described as the premature fusion of cranial sutures that belongs to a group of alterations which produce an abnormal phenotype. Case report: Two unrelated female patients with clinical findings of Apert syndrome-characterized by acrocephaly, prominent frontal region, flat occiput, ocular proptosis, hypertelorism,...

The Beckwith-Wiedemann syndrome is the most common genetic entity in overgrowth, with an approximate incidence of 1 in 10 00013 700births. Its broad clinical spectrum includes pre- and postnatal macrosomia, macroglossia, pinna abnormalities, abdominal wall defects, visceromegaly, and hyperinsulinemic hypoglycemia. This syndrome predisposes to child...

Caries is the greatest oral health problem in children aged 3–5 years in Indonesia. Early caries treatment can heal toothache and increase quality of life. Silver diamine fluoride (SDF) is used to treat primary teeth caries. Herein, we evaluated the quality of life of 59 children aged 3–5 years 3 months after SDF application. Mothers were given a q...

Anchovy is a common fish found in all over Indonesia's sea. Anchovy, often stated, that it has high fluoride content as well as other ocean fishes, but to date there are limited study measuring the fluoride content in anchovy (Stolephorus insularis) established yet. The aim of this study is to measure fluoride content in Stolephorus insularis using...

Hutchinson-Gilford progeria syndrome (HGPS) is a rare autosomal recessive genetic disorder that occurs as a point mutation in the LMNA gene. It is a rare hereditary disorder, with approximately 100 cases reported in the medical literature. These patients and our case show features of aged appearance (pseudosenilism), loss of subcutaneous fat textur...

Cleidocranial dysplasia (CCD) is a rare autosomal dominant disorder characterized by skeletal and dental abnormalities primarily, short stature, aplasia or hypoplasia of clavicles, open fontanelles and supernumerary teeth. Heterozygous mutations of the runt related transcription factor 2 (RUNX2) gene have been found in approximately 60-70% of cases...

5-α-Reductase type 2 enzyme catalyzes the conversion of testosterone into dihydrotestosterone, a potent androgen responsible for male sexual development during the fetal period and later during puberty. Its deficiency causes an autosomal recessive disorder of sex development characterized by a wide range of under-virilization of external genitalia...

Arch Argent Pediatr 2018;116(2):e303-e307 / e303 Presentación de casos clínicos RESUMEN La isotretinoína es el medicamento más efectivo en el tratamiento del acné noduloquístico recalcitrante grave. Sin embargo, el tratamiento con este fármaco se encuentra asociado con efectos adversos, y el más grave es la teratogénesis. Se ha estimado que 40% de...

Tuberous sclerosis complex (TSC1, OMIM 191100 and TSC2 OMIM 613254) is an autosomal dominant neurocutaneous disorder that affects multiple organs, associated with the development of wide spread hamartomatous lesions including brain, eyes, lungs, heart, liver, kidneys and skin. Mutations in the tumor suppressor genes, TSC1 at 9q34 and TSC2 at 16p13....

Cleidocranial dysplasia is an uncommon bone dysplasia with an autosomal dominant inheritance pattern characterized by short stature, large fontanels, midface hypoplasia, absence or hypoplasia of clavicles and orodental alterations. This is produced by mutations in the RUNX2 gene located at 6p21.1. We report two male adolescents (cousins), with clei...

This clinical trial compared the external dental stain reduction achieved by tested toothpaste versus placebo in adult patients. In this double-blind, parallel, randomised clinical trial, 45 female volunteers with a mean age of 20 years old were included. All study subjects front teeth were topically applicated with Silver Diamine Fluoride (SDF) to...

Dental caries is one of the most prevalent infectious diseases in children in Indonesia. Therefore, a solution to overcome caries is needed. Evaluate Silver diamine fluoride (SDF) application for overcoming caries in children and determine factors related to the percentage of arrested caries after SDF application. Cohort study for evaluation and a...

Marfan syndrome is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, mostly caused by mutations in the FBN1 gene, which is located on chromosome 15q21.1 and encoding fibrillin 1. We report a case of Marfan syndrome presenting with severe ocular and systemic manifestations, such as cardiac congenital anomalies. The pa...

Hypohidrotic ectodermal dysplasia (HED) is a rare disease characterized by deficiency in development of structure derived from the ectoderm and is caused by mutations in the genes EDA, EDAR, or EDARADD. Phenotypes caused by mutations in these three may exhibit similar clinical features, explained by a common signaling pathway. Mutations in EDA gene...

Ectodermal dysplasias are a wide group of skin diseases characterized by defects in appendages of ectodermal origin. Patients with hypohidrotic ectodermal dysplasia, the most common type of ectodermal dysplasia, usually present the clinical triad constituted by hypodontia, hypotrichosis and hypohidrosis, caused by mutations in genes coding to compo...

Aim of the study. Root fractures which occur as a result of dental trauma may change according to school and holiday periods, and seasons. The aim of our study was to evaluate their incidence as dental trauma based on seasonal variation in children between 8-15 years of age. Material and method. This epidemiological study was performed on 76 childr...

Background The aim of this study was evaluation of the cone-beam computed tomography (CBCT) image of 50 patients at the ages of 8-15 suspecting root fracture and root fracture occurred, exposed to dental traumatic. In additionally, this study was showed effect of crown fracture on root fracture healing. Material and Methods All of the individuals...

Background: Beckwith-Wiedemann syndrome (BWS, OMIM 130650) is a rare genetic disorder characterised by overgrowth, tumor predisposition and congenital malformations. Few systemic manifestations and oral features have been reported so far. Case report: We report on a case of BWS, describing all features expanding the knowledge on oro-dento-facial...

Craniosynostosisis a defect of the skull caused by premature fusion of one or more cranial sutures. It may be isolated finding or part of a syndrome and affects 1 in every 2,500 live births. Usually multiple sutures are involved and correspond in at least 20% of the cases. Syndromic craniosynostosis can be associated with various dysmorphic feature...

Ectodermal dysplasia encompasses more than 200 clinically distinct entities, which affect at least two structures derived from the ectoderm, including the skin, hair, nails, teeth, sweat glands, and sebaceous glands. X-linked hypohidrotic ectodermal dysplasia is the most common type and is caused by mutation of the EDA gene that encodes Ectodysplas...

Background: Triple A or Allgrove Syndrome (OMIM#231550) is a rare, autosomal recessive genetic disorder in which patients typically suffer from chronic adrenal insufficiency due to resistance to ACTH (Addison's disease), esophageal achalasia, and defective tear formation (alacrima). The syndrome is caused by mutations in the AAAS gene on chromosom...

Background: This study aimed to review the results related to head and jaw disorders in cases of ectodermal dysplasia. The evaluation of ectodermal dysplasia cases was made by clinical examination and examination of the jaw and facial areas radiologically and on cone-beam 3-dimensional dental tomography (CBCT) images. Material and methods: In th...

This report deals with a case of Cleidocranial Dysplasia (CCD) associated to a rare mutation of the RUNX2 gene and a peculiar dental phenotype, namely no supernumerary teeth. The aim consists in evaluating the long-term follow-up after treatment and discussing the pathogenetic mechanism of the mutation. We have carried out a clinical evaluation aft...

Ectodermal dysplasias are a group of genetic disorders characterized by the abnormal development of the ectodermal-derived structures. X-linked hypohidrotic ectodermal dysplasia, resulting from mutations in ED1 gene, is the most common form. The main purpose of this study was to characterize the phenotype spectrum in 45 males harboring ED1 mutation...

Objectives: To compare the condylar, ramal, condylar-plus-ramal mandibular asymmetry of patients with ectodermal dysplasia and healthy control subjects with using cone beam computerized tomography (CBCT). Materials and methods: CBCT of 9 patients (4 girls, 5 boys) with ectodermal dysplasia and 10 healthy control subjects (5 girls and 5 boys) with n...

In times where rare diseases, mostly of genetic offspring, lead research to carry out genetic counselling to better understand the pathogenetic role of the diseases, with chances to develop alternative therapy respect than the multyspecialistic and symptomatic approach, we report on a case of X linked Hypohidrotic Ectodermal Dysplasia, knowing the...

The ectodermal dysplasias (EDs) are a large and complex group of inherited disorders. In various combinations, they all share anomalies in ectodermal derived structures: hair, teeth, nails and sweat gland function. Clinical overlap is present among EDs. Few causative genes have been identified, to date. Altered gene expression is not limited to the...

Introduction Ectodermal dysplasia syndromes are a heterogeneous group of inherited diseases characterised by abnormal development of tissues of ectodermal origin. The most common form of ectodermal dysplasia syndromesis X-linked hypohidrotic ectodermal dysplasia characterised by abnormalities of the skin, teeth, hair and sweat glands. The intraoral...

X-linked reticulate pigmentation disorder with systemic manifestations (XLPDR) is an extremely rare genodermatosis with recessive X-linked inheritance but unknown molecular basis. In males, cutaneous involvement is characterized by reticulate hyperpigmentation of the skin that is associated with a typical facies and severe systemic involvement. In...

The purpose of this study was to determine the potential of platelet-rich fibrin (PRF) membranes used for guided bone and tissue regeneration. A patient with insufficient alveolar ridge width in aesthetic zone was enrolled. The patient's blood was centrifuged to obtain PRF membranes. Autogenous bone graft was mixed with bovine hydroxyapatite, PRF p...

Alagille Syndrome (AGS) is a genetically determined multisystem disorder affecting liver, hearth, eyes, skeleton and facies, less commonly kidney and CNS. The prognosis depends on the severity of the associated anomalies. The liver pathology plays a central role in that most clinical complications are due to long standing cholestasis as a consequen...

Aim: Diastemas can be treated using periodontal, surgical, orthodontic, or prosthetic procedures. Composite laminate veneers can be applied to reduce or eliminate diastemas and represent a good aesthetic non-invasive alternative for these patients. This study presents the treatment results of 10 patients with diastemas between the anterior teeth of...

The RUNX2 gene is a physiological regulatory gene implicated in the development of cleidocranial dysplasia (CCD). A 13-month-old child presented with clinical features of CCD. At the age of 3 years the diagnosis was corroborated by clinical genetic assessment and DNA analysis, revealing a missense mutation p.R131C (c.391C>T) in RUNX2. At the...

The aim of this study was to describe the clinical treatment of young patients, affected by ectodermal dysplasia (ED), and to possibly establish clinical guidelines. The study design was case series. ED syndromes (EDs) are a heterogeneous group of inherited diseases characterised by abnormal development of tissues of ectodermal origin. The most com...

Ectodermal Dysplasias (ED) are a heterogeneous group of inherited disorders characterized by dysplasia of tissues of ectodermal origin. Complete or partial anodontia are the most frequent dental findings. Prosthetic rehabilitation is recommended from functional, esthetic, and psychological points of view. Because of the anatomical abnormalities of...

Ectodermal dysplasia is a rare disease which affects at least two ectodermal-derived structures such as hair, nails, skin, sweat glands and teeth. Approximately 200 different conditions have been classified as an ectodermal dysplasia and X-linked hypohidrotic ectodermal dysplasia (XHED) represents the commonest form. Clinically, XHED is characteriz...