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.

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.

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.

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.

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.

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.

Multiple familial smooth muscle hamartomas.

Smooth muscle hamartoma is a cutaneous abnormality characterized by a disorganized proliferation of normal muscle fibers of arrector pili. Usually a single congenital hypertrichotic plaque involves the trunk and the extremities. Multiple lesions have rarely been reported in the literature. We describe three members of the same family with multiple skin-colored patches on the back and legs, histologically confirmed as smooth muscle hamartomas. To our knowledge this is the first report of multiple smooth muscle hamartomas in different members of the same family and quite interestingly involving the same skin site.

Aplasia cutis congenita in surviving co-twins: four unrelated cases.

Four unrelated patients born from twin pregnancies and showing extracranial aplasia cutis congenita are reported. All the patients lost their co-twins during the first half of the pregnancy. Two of the patients had the characteristic truncal and symmetrical type of aplasia cutis associated with fetus papyraceus and placental abnormalities. The presence of multiple hepatic hematomas in one of them gives further credit to a "vascular disruption" as the possible pathogenetic mechanism of the disorder. The two other patients were born with symmetrical aplasia cutis at the extensory aspects of both knees, which presumably represents a milder expression of the former defect. Thus the so-called aplasia cutis with fetus papyraceus shows heterogeneity in localization, extension, presence of extracutaneous abnormalities, and possible association with fetus papyraceus at birth. To include all the patients affected by this peculiar type of aplasia cutis congenita, the designation of aplasia cutis with extracranial symmetrical involvement is proposed.

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.

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.

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.

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.

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.

[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.

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.