Effectiveness and safety of cyclosporine in pediatric plaque psoriasis: A multicentric retrospective analysis.

BACKGROUND: Cyclosporine (CysA) is effective for psoriasis in adult patients but little data exist about its efficacy and safety in childhood and adolescence psoriasis. OBJECTIVES: To assess the effectiveness and safety of CysA for childhood and adolescence psoriasis. METHODS: Retrospective analysis of a group of children and adolescents (age < 17 years) with plaque psoriasis treated with CysA at several Italian dermatology clinics. RESULTS: Our study population consisted of 38 patients. The median age at the start of treatment was 12.3 years. Therapy duration varied from one to 36 months. The median maintenance dosage per day was 3.2 mg/kg (range 2-5 mg/kg). Fifteen patients (39,4%) achieved a complete clearance or a good improvement of their psoriasis defined by an improvement from baseline of ≥75% in the psoriasis area and severity index (PASI) at week 16. Eight patients (21.05%) discontinued the treatment due to laboratory anomalies or adverse events. Serious events were not recorded. CONCLUSIONS: In this case series, CysA was effective and well-tolerated treatment in a significant quote of children. CysA, when carefully monitored, may represent a therapeutic alternative to the currently used systemic immunosuppressive agents for severe childhood psoriasis.

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.

Family with "pure" hair-nail ectodermal dysplasia.

"Pure" ectodermal dysplasias are developmental disorders affecting only tissues of ectodermal origin. Two different pure ectodermal dysplasias involving only hair and nails have been described to date. Here we describe congenital nail dystrophy and hypotrichosis associated with folliculitis decalvans in a family suggesting autosomal-dominant transmission. This report documents peculiar clinical and ultrastructural hair findings that fit poorly into previously described conditions. Thus the reported patients could represent a new type of pure ectodermal dysplasia.

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.

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.

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.

Altered expression of a new antigen of the dermal-epidermal junction (NU-T2 DEJ Ag) in junctional epidermolysis bullosa.

NU-T2 antigen (Ag) is a new and recently described antigen of the dermal-epidermal junction, recognized by an anti-CD1b monoclonal antibody denominated NU-T2. We studied NU-T2 Ag expression in junctional epidermolysis bullosa (13 patients) and in other forms of hereditary epidermolysis bullosa (23 patients), comparing the results with nicein expression. In junctional epidermolysis bullosa gravis type no differences were found between the expression of NU-T2 and nicein, both being negative in bullous as well as in non-bullous skin. Interestingly, in mitis type junctional epidermolysis bullosa, NU-T2 Ag was found to be absent or reduced in five of six patients both in lesional and in uncleaved skin. When compared with nicein expression, clearcut differences were found, further suggesting that these two antigens are different. These data confirm that NU-T2 Ag is a novel epitope of the dermal-epidermal junction, probably relevant in dermal-epidermal cohesion, and it could be responsible, together with nicein, 19-DEJ-1 and other adhesion molecules, for the different subtypes of junctional epidermolysis bullosa. Finally, NU-T2 monoclonal antibody is a new relevant tool for the diagnosis, classification, and prenatal diagnosis of junctional epidermolysis bullosa.

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.

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.

Subungual giant cell tumor of the tendon sheath.

Although it is one of the most frequent neoplasms affecting the hand, the giant cell tumor of the tendon sheath has received little attention in the dermatologic literature. The first case of a subungual localization of giant cell tumor of the tendon sheath and a review of its main characteristics are reported.

[Lichen planus in children: 12 cases]. / Lichen plan de l'enfant. 12 cas.

OBJECTIVE: Lichen planus is in children uncommon and poorly understood. The classical description is comparable to lichen planus in adults. We conducted a retrospective analysis of 12 cases in children. PATIENTS AND METHODS: Twelve children with lichen planus consulted the Saint-Louis or Robert-Debré hospitals between February 1994 and March 1996. Data collected included: age, sex, ethnic origin, drug use, anti-hepatitis vaccination status, disease history, physical examination, skin histology, liver tests, hepatitis B and C serology, treatment and outcome. Histological proof was obtained in all cases but one (a child with isolated ungueal involvement whose sister had histologically proven ungueal lichen planus). RESULTS AND DISCUSSION: The clinical features classically described in adults were atypical in all our childhood cases. A rapidly extensive eruption was the main sign in 6 cases. The localizations were unusual with lesions involving all four limbs and the trunk as well as the face in 5 cases and the scalp in 1. Mucosal involvement, observed in 65 p. 100 of adult cases was only found in one of our children. Unguel involvement also appears to be uncommon in children. The etiological pattern was also unusual since we did not observe a single case related to drugs or hepatitis B or C infection. Three children developed a lichen eruption after anti-hepatitis B infection. Four other cases of lichen planus after anti-hepatitis B vaccination have been reported in the literature. Mean delay between the booster vaccination and onset of eruption is reported to be 40 days. The increased incidence of childhood lichen planus in tropical zones suggests ethnic, genetic and climatic factors may be involved. Prognosis is poorly defined in the literature. Certain authors emphasize the long duration of the disease and resistance to treatment in cases of childhood lichen planus. Currently, there is no consensus on treatment. Dermocorticoids in combination with antihistaminics are usually prescribed. General corticosteroid therapy would appear to be warranted in extensive progressive forms with important functional and esthetic impact (scalp involvement with cicatricial alopecia, pigmentation sequellae). The role of other drugs, particularly retinoids, remains to be defined. This retrospective series was not statistically significant. Data in the literature are rather discordant, emphasizing the need for a prospective analysis to acquire a better understanding of the real incidence of childhood lichen planus and better define the therapeutic strategy.

Hereditary painful callosities with associated features.

'Hereditary painful callosities' defines an autosomal dominant nummular palmoplantar keratoderma characterized by the development of painful keratotic lesions over pressure points. Two unrelated patients with hereditary painful callosities with other familial acral abnormalities are reported. To our knowledge subtotal congenital leukonychia and symmetrical bone duplication of great toes have not been previously described in association with this disorder.

A sporadic case of congenital hypotrichosis simplex of the scalp: difficulties in diagnosis and classification.

Hereditary hypotrichosis simplex of the scalp is a genotrichosis characterized by a hair defect limited to the scalp in the absence of other ectodermal or systemic abnormalities. Only large pedigrees consistent with autosomal dominant transmission have been described to date. In this article the clinical and scanning electron microscopy findings of a nonfamilial case of congenital scalp hypotrichosis simplex are reported. In some patients the diagnosis of sporadic hypotrichosis simplex of the scalp should be considered after ruling out all other possible causes of congenital and hereditary hypotrichosis.

Severe self-healing nail dystrophy in a patient on peritoneal dialysis.

The unusual case of a patient on peritoneal dialysis who progressively developed onychodystrophy of the hands 2 months after Acinetobacter peritonitis had been reported. The nail disease consisted of acute pseudoclubbing, elkonyxis, severe Beau's lines and onychomadesis and showed spontaneous recovery within 4 months. Although reminiscent of severe Beau's lines and reflex sympathetic dystrophy, this observation shows a peculiar nail disorder of unknown cause.

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.

Uncommon clinical presentations of juvenile xanthogranuloma.

Two unusual clinical presentations of juvenile xanthogranuloma (JXG), the most common non-Langerhans cell histiocytosis, are described: a flat 'plaque-like' and a 'paired' form. This report confirms the great variability of JXG. Besides representing a dermatological curiosity, the recognition of these atypical forms of presentation should facilitate the clinical diagnosis of the disorder.