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S Cambiaghi

Publications and source records attributed to S Cambiaghi.

At least 19 recordsLinked to original sources
PubMed2002

Ultraviolet light exposure is not a requirement for the development of cutaneous neonatal lupus.

Cutaneous neonatal lupus erythematosus (NLE) is a rare disorder, linked to the presence of transplacentally acquired maternal autoantibodies (anti-ENA). NLE skin lesions frequently appear in the second or third month of life, and ultraviolet exposure is thought to be an initiating factor since it can externalize intranuclear autoantigens at the cell surface. We report a baby who was born already with an extensive NLE rash, suggesting that sun exposure is not a requirement for the development of NLE skin lesions. A 31-year-old woman affected with mixed connective tissue disease gave birth to a female after 38 weeks of gestation. Pregnancy was uneventful and no perinatal complications were seen. The mother was positive for anti-RNP, but negative for anti-SSA/Ro and SSB/La autoantibodies. Already at birth, an extensive scarring rash with a few erythematosus lesions was present on the baby's face and scalp; this progressed over the following months, and subsequently stabilized. Anti-RNP were present in the baby's serum. Due to the unusual features of the disease expression, a skin biopsy was performed at age 5 months; results were consistent with the diagnosis of NLE, showing mononuclear cell infiltration and immunoglobulin deposition. No other features of NLE were detected. This observation is unusual for: (1) the presence of an NLE rash in the absence of anti-SSA/Ro; (2) the scarring and atrophic characteristics of the lesions; and (3) the development already in utero. This latter finding argues against sun exposure being necessary for lesion induction.

Adult↗
PubMed2001

The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia.

Mutations in ectodysplasin, the protein product of the EDA or ED1 gene, cause X-linked anhidrotic ectodermal dysplasia. From sixteen families we have identified thirteen mutations, of which nine were novel: a deletion of the entire exon 1, altered splicing site in intron 7 (IVS-2A-->G) and in intron 9 (IVS9+8 C-->G), deletion of 8 bp (1967-1974 nt), four missense mutations (G255C, G255D, W274G, C332Y) and nonsense mutation W274X. Previously identified and the novel mutations form four clusters: 1) at the junction of the transmembrane and extracellular domains, 2) at a putative protease recognition site, possibly affecting cleavage of ectodysplasin, 3) at the trimerizing collagen-like domain, and 4) at regions of high homology to tumor necrosis factor domains. Truncating and splice site mutations occur within the proximal two-thirds of the protein. Our data suggest the functional importance of specific ectodysplasin domains. Hum Mutat 17:349, 2001.

Alternative Splicing↗
PubMed2001

Heterochromia of the scalp hair: a result of pigmentary mosaicism?

Five patients who presented stable bands of hair of a different color with respect to the surrounding hair are reported. In 4 patients this was an isolated finding. One patient also had diffuse linear skin hypopigmentation and other abnormalities. We hypothesize that these 5 cases represent a distinct type of hair heterochromia, possibly because of somatic mosaicism for genes affecting pigmentation.

Adult↗
PubMed2001

Clear cell papulosis (pagetoid papulosis) in a non-Asian patient.

Clear cell papulosis is a recently described disorder which is characterized by multiple flat, slightly elevated, hypopigmented papules, distributed mainly on the lower part of the trunk of healthy children. Histologically, the disease shows 'clear cells' with a pagetoid appearance spread among keratinocytes in basal and suprabasal layers of the epidermis. These cells stain for AE1, CEA and EMA, making a relationship to eccrine or apocrine elements likely. All cases reported until now describe Asian children. The first European child with clear cell papulosis is presented.

Child, Preschool↗
PubMed2001

Nail lichen planus in children: clinical features, response to treatment, and long-term follow-up.

OBJECTIVE: To report clinical features, response to treatment, and long-term follow-up of nail lichen planus in children. DESIGN: Retrospective study involving 15 children with nail lichen planus. SETTING: Outpatient consultation for nail disorders at the Department of Dermatology of the University of Bologna, Bologna, Italy. PATIENTS OR OTHER PARTICIPANTS: We diagnosed nail lichen planus in 15 children younger than 12 years, including 10 children with typical nail matrix lesions, 2 children with 20-nail dystrophy (trachyonychia), and 3 children with idiopathic atrophy of the nails. Only 2 of the 15 children had oral lichen planus; none had cutaneous lesions. A nail biopsy confirmed the diagnosis in all cases. INTERVENTION: Intramuscular triamcinolone acetonide, 0.5 to 1 mg/kg per month, was prescribed to children with typical nail lichen planus and prolonged from 3 to 6 months until the proximal half of the nail was normal. No treatment was prescribed to patients with 20-nail dystrophy or idiopathic atrophy of the nails. RESULTS: Treatment with systemic corticosteroids was effective in curing typical nail lichen planus. Two children experienced a recurrence of the disease during the follow-up. Recurrences were always responsive to therapy. The 2 children with 20-nail dystrophy improved without any therapy. Nail lesions caused by idiopathic atrophy of the nails remained unchanged during the follow-up period. CONCLUSIONS: Nail lichen planus in children is not rare but probably underestimated. It often presents with atypical clinical features such as 20-nail dystrophy or idiopathic atrophy of the nails.

Child↗
PubMed2000

Clinical findings in mosaic carriers of hypohidrotic ectodermal dysplasia.

BACKGROUND: Hypohidrotic ectodermal dysplasia (HED) is a severe developmental disorder in which nonallelic genetic heterogeneity has been demonstrated. Even though X-linked and autosomal recessive forms are phenotypically similar, identification of the way of transmission is mandatory to give reliable genetic counseling to the family and to address molecular studies. Complete examination of relatives of patients with HED and identification of carriers of partial forms of the disorder in their families is the key to clarifying intrafamilial genetic transmission. OBSERVATIONS: Seven patients diagnosed as having HED and their first-degree relatives were carefully examined and tested with starch-iodine. Useful signs for identifying possible carriers of and postzygotic mosaics for X-linked HED and for finding distinctive features between the X-linked and the autosomal recessive forms of the disorder were recorded. Of these, the most striking finding was the clinical evidence of the distribution of normal and abnormal skin along Blaschko lines in heterozygous and postzygotic mutation carriers of X-linked HED. Six heterozygous female carriers of X-linked HED, 2 males with postzygotic mutations for X-linked HED, and 1 female with autosomal recessive HED were clinically identified. At the end, 6 families had a diagnosis of X-linked HED, while 1 had a diagnosis ofautosomal recessive HED. Clinical data, family history, and starch-iodine test results were never in conflict in the 7 families. CONCLUSIONS: Careful clinical examination is the best way to detect heterozygous carriers and postzygotic mutation of X-linked HED. Heterozygous parents of patients with autosomal recessive HED show no features of the disorder. The starch-iodine test is not superior to a clinical examination in heterozygous carrier detection but may play a confirmative role and be of help in differentiating X-linked and autosomal recessive HED in isolated patients.

Adult↗
PubMed2000

Delleman syndrome: report of a case with a mild phenotype.

Delleman syndrome is a rare disorder characterised by orbital cysts, micro/anophthalmia, malformations of the central nervous system, focal aplasia cutis, and multiple skin appendages (oculocerebrocutaneous syndrome). Although cutaneous findings provide the main clues for the diagnosis, the syndrome has received little attention in the dermatological literature. A new case of oculocerebrocutaneous syndrome with predominant and typical cutaneous involvement is reported.

Abnormalities, Multiple↗
PubMed2000

Fingertip calcinosis cutis.

Calcinosis cutis, a rare disorder caused by an abnormal deposit of calcium phosphate into the skin, is observed in a variety of disorders. Peculiar conditions feature skin calcifications in children and may have an iatrogenic origin. The unusual case of a baby showing periodic transepidermal elimination of calcified nodules from her fingertips is reported. In this case, fingertip calcinosis cutis was probably caused by ischemic damage due to the venous obstruction that occurred during intensive care in the neonatal period.

Calcinosis↗
PubMed1999

A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families.

The multiplicity of functions served by intercellular gap junctions is reflected by the variety of phenotypes caused by mutations in the connexins of which they are composed. Mutations in the connexin26 (Cx26) gene ( GJB2 ) at 13q11-q13 are a major cause of autosomal recessive hearing loss (DFNB1), but have also been reported in autosomal dominant deafness (DFNA3). We now report a Cx26 mutation in three families with mutilating keratoderma and deafness [Vohwinkel's syndrome (VS; MIM 124500), as originally described]. VS is characterized by papular and honeycomb keratoderma associated with constrictions of digits leading to autoamputation, distinctive starfish-like acral keratoses and moderate degrees of deafness. In a large British pedigree, we have mapped the defect to the Cx26 locus. All 10 affected members were heterozygous for a non-conservative mutation, D66H, in Cx26. The same mutation was found subsequently in affected individuals from two unrelated Spanish and Italian pedigrees segregating VS, suggesting that D66H in Cx26 is a common mutation in classical VS. This mutation occurs at a highly conserved residue in the first extracellular domain of the Cx26 molecule, and may exert its effects by interfering with assembly into connexons, docking with adjacent cells or gating properties of the gap junction. Our results provide evidence that a specific mutation in Cx26 can impair epidermal differentiation, as well as inner ear function.

Adolescent↗
PubMed1998

Phacomatosis pigmentokeratotica: report of new cases and further delineation of the syndrome.

BACKGROUND: The epidermal nevus syndromes include different diseases that have the common feature of mosaicism. One of these has been recently identified and named phacomatosis pigmentokeratotica, in analogy to phacomatosis pigmentovascularis. It is characterized by an organoid nevus with sebaceous differentiation, a speckled-lentiginous nevus, and other associated anomalies. It has been hypothesized that this syndrome is caused by a particular genetic mechanism known as the twin-spot phenomenon. OBSERVATIONS: We describe 3 patients manifesting an association of organoid nevus showing sebaceous differentiation and speckled-lentiginous nevus with associated anomalies and update the neurologic findings of a previously described patient. Hemiatrophy seems to be a common finding in all cases; hyperpathia, dysesthesia, and hyperhidrosis, as well as other neurologic defects, may be present. CONCLUSIONS: The findings in these patients allowed us to better delineate this syndrome. Further studies are needed to elucidate the underlying genetic defect. At present, however, the hypothesis that best explains this phenotype is twin spotting. Clinical recognition of this syndrome can contribute to the classification of the epidermal nevus syndromes and give insight into unusual genetic mechanisms occurring in humans.

Adolescent↗
PubMed1998

Skin dimpling as a consequence of amniocentesis.

No reports of cutaneous lesions after amniocentesis have been published after the advent of real-time ultrasonography. Two infants with multiple skin dimpling caused by needle puncture during fetal life are described. They had pitted scars on the thighs and abdomen that were not associated with internal injury. Both mothers had undergone a diagnostic amniocentesis at the beginning of the second trimester of pregnancy. Real-time ultrasound monitoring of amniocentesis has not completely eliminated the risk of needle puncture scarring of the fetus.

Abdomen↗
PubMed1998

Steatocystoma multiplex and leuconychia in a child with Alagille syndrome.

Alagille syndrome is a rare autosomal dominant developmental disorder, characterized by congenital paucity of interlobular bile ducts, peculiar facies, posterior embryotoxon, bone abnormalities, and peripheral pulmonary artery stenosis. Cutaneous involvement in this disorder is quite rare and the association of Alagille syndrome with multiple comedones and cysts has been described only once. Here, we report the clinical and histological findings of a 7-year-old patient affected by Alagille syndrome who presented multiple cystic lesions and comedones reminiscent of steatocystoma multiplex and a congenital total true leuconychia. Although unexplained, the association of this syndrome with a developmental disorder of the pilosebaceous unit may not be fortuitous.

Alagille Syndrome↗
PubMed1998

Unusual hyperpigmentation developing in congenital reticular ichthyosiform erythroderma (ichthyosis variegata).

We present an unusual new clinical feature which developed in a patient with congenital reticular ichthyosiform erythroderma. This rare ichthyotic disorder is characterized by erythematous ichthyotic skin surrounding slowly enlarging areas of normal skin, and by a pathognomonic ultrastructural pattern, namely perinuclear deposits of a filamentous material in vacuolized keratinocytes. At the age of 18 years, a 23-year-old woman developed several irregular hyperpigmented macules on her limbs, which were almost black in colour. These lesions have not been observed in the other patients affected by the disease nor, to our knowledge, in other ichthyotic disorders. Electron microscopy and immunohistochemistry demonstrated that the lesions were strictly related to the ichthyotic skin and that their dark colour was especially due to melanosome accumulation in activated dendritic melanocytes. An unusual postinflammatory hyperpigmentation, in which the lack of pigment deposition in the keratinocytes is due to a transfer defect in pathological cells, is hypothesized. A characteristic hyperplastic stimulation of the epidermis is also taken into consideration to explain the lack of a similar picture in other erythrodermic ichthyotic disorders with a continuous inflammatory process.

Adult↗
PubMed1998

Hairy elbows.

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Child↗