Dominique Hamel-Teillac

Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome.

We describe here eleven different mutations in SPINK5, encoding the serine protease inhibitor LEKTI, in 13 families with Netherton syndrome (NS, MIM256500). Most of these mutations predict premature termination codons. These results disclose a critical role of SPINK5 in epidermal barrier function and immunity, and suggest a new pathway for high serum IgE levels and atopic manifestations.

Subcutaneous fat necrosis of the newborn: a systematic evaluation of risk factors, clinical manifestations, complications and outcome of 16 children

Background  Subcutaneous fat necrosis (SFN) of the newborn is a rare acute transient hypodermatitis that develops within the first weeks of life in term infants. It often follows a difficult delivery. Prognosis is generally good except for the development of hypercalcaemia in severe cases. Only several case reports or small patients series have been published.

Clinical and histologic features of incontinentia pigmenti in adults with nuclear factor-κB essential modulator gene mutations

BACKGROUND Incontinentia pigmenti (IP) is a multisystem disorder, in which cutaneous symptoms can be accompanied by dental, ocular, and central nervous system defects. In adults, the clinical diagnosis of IP is based principally on the late onset of stage 4 lesions and their association with dental, nail, ocular, or central nervous system anomalies. Nevertheless, these lesions are often unrecognized. OBJECTIVES Our aim was assessment of IP manifestations in adults to clarify diagnostic criteria for mild forms of the disease, to help physicians detect adult IP in the presence of subtle lesions and avoid misdiagnosis. METHOD We conducted clinical and histologic examination of 25 adults with IP and nuclear factor-κB essential modulator gene rearrangement or mutations. RESULTS Linear atrophic, hypopigmented, and hairless lesions (stage 4) are constant in adults. Apoptotic keratinocytes in the epidermis or dermis and atrophic hair follicles, with absence of arrector pili muscles, are frequently observed. In contrast, nipple anomalies are rare. LIMITATIONS We were unable to determine the age of the onset of IP stage 4 lesions. CONCLUSION Skin manifestations are constant in adult patients with IP. Histology is characteristic and could be considered as a minor diagnostic criterion of IP. Nipple anomalies also may be considered as a minor criterion. Detection of such subtle manifestations can evoke IP in patients with repeated miscarriages or unexplained neurologic manifestations.

Infantile myofibromatosis: A series of 28 cases

BACKGROUND Infantile myofibromatosis (IM) is a rare disorder of fibroblastic/myofibroblastic proliferation in children. OBJECTIVES We sought to document common and unusual characteristics of patients with IM. METHODS This was a retrospective study of 28 children diagnosed with histopathologically confirmed IM between 1992 and 2012. Epidemiologic, clinical, and treatment data were reviewed. RESULTS IM was more frequent in boys (60.8%). Skin lesions were congenital in 64.3% of cases. The solitary form accounted for 50% of cases. Most nodules were painless, arising in cutaneous or subcutaneous tissue. The multicentric form accounted for 39% of cases; the skin, subcutaneous tissue, or muscle was involved in 97.8% of cases, and the bones in 50% of cases. The generalized form had a mortality rate of 33% (one-third of cases). Multicentric and generalized forms regressed spontaneously; severe local complications were observed, and late recurrent nodules developed in a few cases. LIMITATIONS The retrospective review and the ascertainment of patients (from the departments of obstetrics and pediatrics) may have introduced bias in the analysis of severity of the different forms of IM. CONCLUSION The diagnosis of IM must be confirmed histopathologically because the clinical presentation can be misleading. The prognosis is usually good, although local morbidity can occur. The generalized and multicentric forms merit long-term follow-up.

Plexiform fibrohistiocytic tumor: three unusual cases occurring in infancy.

Background:  Plexiform fibrohistiocytic tumor is a soft‐tissue tumor of intermediate malignancy occurring in children and young adults but is only rarely found in infants. The tumor usually involves the upper limbs and is slow growing and painless. Recurrence rate is high. Lymph node and systemic metastases can occur, but have never been reported in infants. Clinical behavior in infancy is not known. Histologically, the tumor is characterized by nodules of histiocyte‐like and multinucleated cells and fascicles of spindle cells arranged in a plexiform pattern. Mitosis, atypia, and nuclear pleomorphism are common but not pronounced.

Lymphomatoid papulosis in children: a series of 25 cases

Lymphomatoid papulosis (LyP) is an uncommon cutaneous T‐cell lymphoproliferative disorder (CTLPD) rarely encountered in children.

Beard infantile hemangioma and subglottic involvement: are median pattern and telangiectatic aspect the clue?

Identification of patient at risk of subglottic infantile hemangioma (IH) is challenging because subglottic IH can grow fast and cause airway obstruction with a fatal course.

Life-Threatening Hemorrhaging in Neonatal Ulcerated Congenital Hemangioma: Two Case Reports

IMPORTANCE Congenital hemangiomas (CHs) are rare benign vascular tumors that differ from common infantile hemangiomas in that they grow in utero and are fully developed at birth. While ulceration is a common, predominantly benign complication in infantile hemangioma, little is known about the prognosis of ulcerated CH. However, it has been observed that ulcerated CH may be complicated by life-threatening bleeding episodes. OBSERVATIONS We report 2 cases of ulcerated rapidly involuting congenital hemangiomas (RICH) that were complicated by life-threatening bleeding episodes in the neonatal period. In both cases, the CHs were fed by high-flow vessels and the ensuing massive bleeding was due to superficial vessel wall erosion induced by the ulceration. Both patients were successfully treated with intravascular embolization; one patient underwent additional hemostatic surgery. CONCLUSIONS AND RELEVANCE These 2 cases highlight the importance of closely monitoring children with ulcerated CH because of the risk of severe bleeding. Embolization is the treatment of choice in the case of severe bleeding, as the natural history of RICH is to spontaneously regress.

A case of congenital granular parakeratosis.

gested that different from MF, in ATLL, prominent apoptotic debris are present within Pautrier microabscesses. This finding is in line with what observed in our case. Because HTLV-1–infected cells are known to feature a decreased apoptotic rate, we hypothesize that the increase of apoptotic material in ATLL skin lesions may be ascribed to faster replication and turnover of neoplastic cells in comparison with slower growing tumors such as MF. It is hoped that future studies will address the biological significance of prominent neoplastic cell apoptosis within ATLL lesions and whether this phenomenon warrants diagnostic and/or prognostic significance.

Cholestase anictérique, une étiologie rare de prurit du nourrisson

Resume Introduction Le prurit du nourrisson est lie le plus souvent a des dermatoses communes. Les causes generales restent exceptionnelles. Nous rapportons deux observations de prurit du nourrisson revelant des cholestases anicteriques. Observation Cas no 1. Un garcon de 13 mois avait un prurit depuis l’âge de 2 mois. L’examen clinique etait non specifique. Les examens biologiques revelaient une elevation isolee et moderee des acides biliaires totaux. La recherche de mutations des genes de la cholestase familiale fibrogene etait negative. Le diagnostic retenu etait celui d’une hypercholanemie. Le traitement associait acide ursodesoxycholique et rifampicine. Il controlait le prurit et normalisait le taux d’acides biliaires. Cas no 2. Un garcon de 21 mois avait un prurit severe depuis l’âge de 2 mois et un retard de croissance. L’examen clinique etait sans particularite. Les examens biologiques revelaient une cholestase a γ-GT normale avec cytolyse moderee et carence en vitamines liposolubles. La biopsie hepatique etait normale. Le diagnostic retenu etait celui de cholestase familiale fibrogene. Le traitement associait acide ursodesoxycholique et rifampicine. Il controlait le prurit et normalisait le bilan hepatique. Discussion Les prurits isoles non dermatologiques sont rares chez le nourrisson. Ces deux observations illustrent deux anomalies du transport des acides biliaires. L’hypercholanemie est un defaut de captation par l’hepatocyte des acides biliaires. La cholestase familiale fibrogene est un defaut d’elimination de ces acides biliaires. Il est important de savoir evoquer ces pathologies car un traitement specifique permet de traiter les symptomes et d’eviter l’evolution des cholestases familiales fibrogenes vers la cirrhose.