Unexpected extradermatological findings in 31 patients with xeroderma pigmentosum type C.

Background: Xeroderma pigmentosum type C (XP-C) is a rare, autosomal, recessive condition characterized by the association of various clinical manifestations mostly involving the skin and eyes.

Objectives: To evaluate the clinical manifestations in a homogeneous, genetically characterized cohort of patients with XP-C.

Methods: All patients with XP-C, which was confirmed genetically or by unscheduled DNA synthesis, from the registry of our department and from the French association of patients 'Les Enfants de la Lune' were contacted.

Severe cutaneous bacillus Calmette-Guérin infection in immunocompromised children: the relevance of skin biopsy.

Disseminated bacillus Calmette-Guérin infection (BCGitis) is an uncommon condition which is usually associated with primary immunodeficiency. Skin histopathology findings have been described in rare cases only. A retrospective clinicopathological study was performed to assess the potential utility of skin biopsies in the diagnosis, prognosis and follow-up of these patients.

Familial benign chronic pemphigus and doxycycline: a review of 6 cases.

Background: Hailey-Hailey disease (HHD) or familial benign chronic pemphigus is a rare autosomal dominant inherited skin disorder, characterized by flaccid vesicles and erosions on the intertriginous areas. Current treatments are not particularly effective. We report 6 cases dramatically improving with doxycycline.

[Melanoma in children: diagnosis and treatment specificities].

Skin melanoma is an extremely rare disease at pediatric age and its incidence increases with age. Links with predisposition syndrome exists (giant congenital naevus, xeroderma pigmentosum). Diagnosis is often difficult and distinction between benign or malignant lesion is sometime impossible (Spitzoid naevus, melanocytic neoplasms) leading to the diagnosis of "melanocytic tumor of uncertain malignant potential" (MELTUMP).

Tibial lymphoplasmacytic plaque: a new, illustrative case of a recently and poorly recognized benign lesion in children.

Tibial lymphoplasmacytic plaque (TLP) is a recently recognized clinicopathological entity affecting children and is characterized by a linear, reddish brown plaque on the leg with a dense dermal lymphoplasmacytic infiltrate. No effective treatments are available for this lesion of unknown etiology and its course is chronic. We report a new case in which, for the first time, a causative factor (insect bite) is strongly suspected.

[Local salicylate transcutaneous absorption: an unrecognized risk of severe intoxication: a case report].

Introduction: Although rare, salicylate intoxication through the skin should not be ignored as it can be severely life-threatening. We describe an original case of accidental poisoning with salicylates topically applied to the scalp of a 6-week-old infant.

Clinical Report: A 6-week-old infant, with no prior history, was admitted to the pediatric intensive care unit for treatment of severe disorders of consciousness associated with significant tachypnea.

Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey.

Autosomal dominant deficiency of signal transducer and activator of transcription 3 (STAT3) is the main genetic etiology of hyper-immunoglobulin (Ig) E syndrome. We documented the molecular, cellular, and clinical features of 60 patients with heterozygous STAT3 mutations from 47 kindreds followed in France. We identified 11 known and 13 new mutations of STAT3.

[Clinical features of Spitz naevus in children: a retrospective study of 196 cases].

Aims: To better define the characteristics of Spitz naevus (SN) in children, to determine whether it was clinically diagnosed and to examine the differential diagnoses made according to age. In addition, to determine whether atypical spitzoid tumors (AST) have a different presentation from other forms of SN.

Patients And Methods: A two-centre retrospective survey was made of histopathological reports written over a 4-year period in children aged under 18 years.

[Eruptive naevi in epidermolysis bullosa hereditaria patients].

Background: EB naevus (EBN) are little-known, atypical, eruptive, pigmented melanocytic lesions that may occur in former sites of bullae occurring in epidermolysis bullosa hereditaria (EBH). We sought to describe the characteristics of such lesions and assess their course.

Patients And Methods: This was a retrospective, two-centre study in which data was collated from the medical files of patients with EBN.

Thrombotic microangiopathy and Purtscher-like retinopathy as a rare presentation of juvenile dermatomyositis.

Juvenile dermatomyositis is a rare systemic vasculopathy that may sometimes present with acute complications. We report here the case of a 7-year-old boy with severe dermatomyositis associated with thrombocytopenia and blurry vision. The presence of schistocytosis and the secondary occurrence of hemolytic anemia were consistent with a diagnosis of thrombotic thrombocytopenic purpura (TTP).

Kawasaki disease: an unexpected etiology of shock and multiple organ dysfunction syndrome.

Objective: Severe forms of Kawasaki disease (KD) associated with shock have recently been reported in which a greater number of coronary artery abnormalities (CAA) were observed. In this study, we analyzed organ involvement not restricted to cardiovascular aspects in severe KD and assessed whether their outcome is different than in common forms.

Design: Retrospective study.

Congenital erosive and vesicular dermatosis: a new case and review of the literature.

Congenital erosive and vesicular dermatosis is a rare syndrome first described by Cohen et al in 1985. Most of the 18 cases published have been reported in premature newborns. Affected babies typically present with erosions and vesicles that tend to heal shortly after birth with reticulated scaring.

Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutations.

Netherton syndrome (NS) is a severe skin disease caused by loss-of-function mutations in SPINK5 (serine protease inhibitor Kazal-type 5) encoding the serine protease inhibitor LEKTI (lympho-epithelial Kazal type-related inhibitor). Here, we disclose new SPINK5 defects in 12 patients, who presented a clinical triad suggestive of NS with variations in inter- and intra-familial disease expression. We identified a new and frequent synonymous mutation c.

The histopathological spectrum of cutaneous meningeal heterotopias: clues and pitfalls.

Aims: To describe the histopathological features of heterotopic cutaneous meningeal tissue.

Methods And Results: Nineteen cases were collected between 1993 and 2010. Immunohistochemistry for epithelial membrane antigen (EMA), neuron specific enolase (NSE), S100, glial fibrillary acid protein (GFAP), progesterone receptor (PR), CD31, glucose transporter-1 (Glut-1), podoplanin and NKI-C3 was performed.

Connective tissue nevi: an entity revisited.

Background: Connective tissue nevi (CTN) may be isolated, either sporadic or hereditary, or syndromic as in the Buschke-Ollendorff syndrome. Few publications have addressed the variable clinical and histopathologic expression of these benign hamartomas.

Objective: We sought to characterize the clinical and histopathologic features of CTN and to highlight a spectrum of clinical disease.

Retiform hemangioendothelioma developed on the site of an earlier cystic lymphangioma in a six-year-old girl.

Retiform hemangioendothelioma (RH) is a rare low-grade malignancy angiosarcoma, with a high rate of local recurrence and a low metastatic risk. A 6 year-old girl with a large cervical cystic lymphangioma diagnosed by ultrasound and Doppler ultrasound, which showed a large multiloculated anechoic cyst with no flow. The lymphangioma was treated with injections of Picibanil (OK-432).

Nutritional outcome in children with severe generalized recessive dystrophic epidermolysis bullosa: a short- and long-term evaluation of gastrostomy and enteral feeding.

Background: Generalized recessive dystrophic epidermolysis bullosa (RDEB) is often complicated by high nutritional difficulties with risks of malnutrition.

Objectives: To provide information regarding the benefits of enteral feeding by gastrostomy (GTF), energy and protein requirements, tolerance, growth and pubertal development in children with RDEB.

Methods: Twenty-four patients were referred over a 7-year period in a retrospective study.

Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis.

Background: Generalized pustular psoriasis is a life-threatening disease of unknown cause. It is characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein, which may be associated with plaque-type psoriasis.

Methods: We performed homozygosity mapping and direct sequencing in nine Tunisian multiplex families with autosomal recessive generalized pustular psoriasis.

Folliculocystic and collagen hamartoma of tuberous sclerosis complex.

Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by tumors and hamartomas in several organs including the skin.

Objective: We sought to describe a new type of complex hamartoma in patients with TSC.

Methods: This was a retrospective clinical and histopathologic evaluation of 6 cases.

Cutaneous B-cell lymphoblastic lymphoma in children: a rare diagnosis.

Background: Lymphoblastic lymphoma (LBL) is a rare malignant neoplasm usually occurring in the mediastinum of children and adolescents. The B-cell immunophenotype of LBL (B-LBL) accounts for less than 20% of all cases and may involve extramediastinal areas, such as the skin. Although highly aggressive, LBL is potentially curable if diagnosed early.