Congenital Langerhans cell histiocytosis: a good prognosis disease?

Langerhans cell histiocytosis is rare and more frequent in children. The skin is affected in 50% of the cases and is the only site in 10%. Its course varies from self-limited and localized forms to severe multisystemic forms. Congenital cases are usually exclusively cutaneous and self-limited, with spontaneous remission in months. This study presents a rare congenital case, initially restricted to the skin, with subsequent dissemination and fatal outcome. A male newborn presented congenital disseminated erythematous scaly lesions. The biopsy was conclusive for Langerhans cell histiocytosis. The patient evolved into the multisystemic form in weeks, when chemotherapy was started, according to the LCH-2009 protocol; however, the patient was refractory to treatment and died.

Lesiones auto-involutivas en histiocitosis de células de Langerhans / Self-healing lesions in Langerhans cell histiocytosis

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Congenital Langerhans cell histiocytosis: a good prognosis disease?

Abstract: Langerhans cell histiocytosis is rare and more frequent in children. The skin is affected in 50% of the cases and is the only site in 10%. Its course varies from self-limited and localized forms to severe multisystemic forms. Congenital cases are usually exclusively cutaneous and self-limited, with spontaneous remission in months. This study presents a rare congenital case, initially restricted to the skin, with subsequent dissemination and fatal outcome. A male newborn presented congenital disseminated erythematous scaly lesions. The biopsy was conclusive for Langerhans cell histiocytosis. The patient evolved into the multisystemic form in weeks, when chemotherapy was started, according to the LCH-2009 protocol; however, the patient was refractory to treatment and died.

Resource utilization and quality of life associated with congenital ichthyoses.

We explored resource utilization (ResUtil) and quality of life (QOL) associated with congenital ichthyoses (CI). Subjects completed an online survey related to clinical severity, demographics, ResUtil, and QOL as measured according to the Dermatology Life Quality Index (DLQI). Validated Likert scales were used to evaluate severity of hyperkeratosis, erythema, and alopecia. ResUtil was determined according to time spent daily treating CI symptoms (TimeTx) and number of ichthyosis-related dermatology visits (DermVisits) per year. We used linear regression to investigate predictors of a transformed DLQI (sqrtDLQI) and logistic regression for ResUtil. Of 235 subjects, 60.2% were female, 83.8% were Caucasian, 42.3% had a family history (FamHx) of CI, and the mean age was 28.7 years (SD 20.3). Predictors for worse QOL were hyperkeratosis severity (ß = 0.27, p < 0.01), erythema (ß = 0.27, p < 0.01), TimeTx (ß = 0.21, p < 0.01), ichthyosis type (ß = 0.09, p < 0.01), and age (ß = 0.01, p = 0.02). Predictors for DermVisits were hyperkeratosis severity (odds ratio [OR] = 1.38, 95% confidence limit [CL] = 1.01, 1.87), FamHx (OR = 0.28, 95% CL = 0.09, 0.85), age (OR = 0.97, 95% CI = 0.96, 0.99), and alopecia severity (OR = 1.43, 95% CL = 1.12, 1.82). Predictors for treatment duration were erythema (OR = 1.35, 95% CL = 1.02, 1.78), age (OR = 0.98, 95% CL = 0.96, 0.99), and DLQI (OR = 1.09, 95% CL = 1.03, 1.15). Increased hyperkeratosis severity and erythema negatively impact QOL in the CI. Furthermore, increased disease severity predicted greater ResUtil, whereas increased age and FamHx predicted less ResUtil. Our findings suggest that better therapies and increased patient education may improve QOL and decrease ResUtil.

A congenital, erythematous eruption.

A 2-day-old male patient born full-term via uncomplicated vaginal delivery was seen for multiple erythematous, scaly papules that were present at birth. Physical examination showed a well-appearing male with erythematous papules with scale on his scalp, face, trunk, and bilateral upper and lower extremities. A 4 mm punch biopsy was performed on one of the representative papules on his abdomen and subsequent histopathological tests showed multiple Langerhans cells in the papillary dermis with positive CD1a and Langerin stains. There was no extracutaneous involvement. A diagnosis of congenital self-healing Langerhans cell histiocytosis was made.

A boy born with multiple lesions of atrophoderma.

AIMS: The Atrophodermas include a large group of disorders appearing as localized or widespread depressed skin areas and characterized by underlying dermal atrophy. The present study aims to report a peculiar form of previously unreported focal dermal atrophy. METHODS: We studied over a period of 5 years a boy who manifested, since birth, multiple hypopigmented cutaneous atrophic lesions of the atrophoderma type in a mosaic distribution over the body and the legs. RESULTS: This boy did no develop other cutaneous or systemic stigmata except for an idiopathic thrombocytopenic purpura (ITP) manifested at age 2 years. Full serum, metabolic and infective analyses; full ophthalmological examination; ultrasound examination of the heart and internal organs; skeletal x-rays; brain magnetic resonance imaging; and DNA analysis of the PORCN (Focal Dermal Hypoplasia - FDH) gene in this boy yielded normal results. Pathological analysis of multiple skin specimens from an affected area revealed slightly reduced dermal thickness; hyperpigmentation of the basal layer; homogenized and disarrayed collagen bundles; perivascular chronic infiltrates of lymphocytes and histiocytes; and normal skin appendages. Currently, the child is healthy; he has mildly improved skin status with less-evident skin depression throughout the lesion areas and no further complication has been recorded. The histological and clinical appearance of the skin lesions and the course were against any known disorder in the group of the atrophodermas. CONCLUSIONS: The cutaneous lesions seen in this boy represent a possibly new congenital skin disorder characterized by multiple, benign areas of focal dermal atrophy in a mosaic distribution.

JAAD Grand Rounds quiz. Linear and whorled hyperkeratosis in a newborn.

LEARNING OBJECTIVES: At the conclusion of this learning activity, physician participants should be able to assess their own diagnostic and patient management skills and use the results of this exercise to help determine personal learning needs that can be addressed through subsequent CME involvement. Instructions for claiming CME credit appear in the front advertising section. See last page of Contents for page number. Instructions: In answering each question, refer to the specific directions provided. Because it is often necessary to provide information occurring later in a series that gives away answers to earlier questions, please answer the questions in each series in sequence.

[Another indication for (erythro)keratodermia variabilis in livestock in the case of a neonatal lamb]. / Ein weiterer Hinweis auf (Erythro)keratodermia variabilis bei Nutztieren am Beispiel eines Schaflammes.

From skin biopsies of a neonatal lamb a congenital skin disease (erythro)keratodermia variabilis was diagnosed which especially showed besides an erythema formation a hyperkeratosis at some wound areas of the body. Despite of a sudden induced intensive therapy the lamb died. At the dissection of the carcass there were no further postmortem-findings which refer to another organic disease than the one of the skin. This case report is the second description of (erythro)keratodermia variabilis in domestic mammals, which is caused by an autosomal dominant inherited horning defect in humans.

Congenital annular erythema persisting in a 15-year-old girl.

We present a 15-year-old girl who has had a persisting extensive annular erythematous eruption since birth. Otherwise, she is healthy and developmentally normal. Multiple investigations throughout the years have been normal or negative. Numerous treatments have been tried, but with little success. Both clinical and histological examination fit no known classification. It is most consistent with annular erythema of infancy but could be the first reported case of a new entity. A review of other causes of annular erythema in infancy is presented.

[Neonatal toxic erythema: 3 atypical cases]. / Erythème toxique néonatal: trois observations atypiques.

UNLABELLED: Diagnosis of pustular dermatosis occurring during the first days of life is based on clinical findings. Erythema toxicum neonatorum (ETN) is the more frequent benign self limiting eruption in the newborn. CASE REPORTS: Three cases of ETN with localized pustules to the genitals and perineal area are described. COMMENT: When encountering a newborn with a localized pustulosis rash, it is important to separate benign condition as ETN from those that require prompt diagnosis and therapy. Atypical ETN and pustular dermatosis due to bacterial or viral infections or inflammatory diseases (e.g., eosinophilic pustulosis) can be differentiated by cytological and bacterial samples.

Cutis marmorata telangiectatica congenita: clinical features in 35 cases.

OBJECTIVE: To evaluate the distribution of skin lesions, clinical features, and associated abnormalities in children with cutis marmorata telangiectatica congenita at onset and during follow-up. DESIGN: Retrospective survey of the available medical data with an average follow-up of 1 year 5 months (range, 0-7 years). SETTING: Pediatric Dermatology Unit (Department of Dermatovenereology) of the Sophia Children's Hospital in Rotterdam, the Netherlands. PATIENTS: The diagnosis of cutis marmorata telangiectatica congenita was clinically established in 35 patients between July 1988 and February 1997. In 33 cases, the typical mottled, blue-violet pattern was present from birth and was readily visible at rest. In 2 cases, the skin lesions initially appeared less reticulated, mimicking a capillary malformation. RESULTS: The skin lesions were almost generalized in 4 children (11%), whereas they were more localized in the other 31 children (89%). Associated anomalies, usually minor and sometimes questionable, were noted in 80% of the patients. Most patients showed a definite improvement of their mottled vascular skin lesions within 2 years. The lesions had totally disappeared, or only faded residual lesions remained. CONCLUSIONS: We believe that cutis marmorata telangiectatica congenita is a relatively mild condition. The prognosis is usually good, with minor associated anomalies. Improvement of the mottled, vascular pattern is usually observed within 2 years. We recommend careful clinical examination of all patients to exclude any associated anomalies. Patients should be referred to a neurologist or an ophthalmologist only if symptoms are present or if vascular lesions are present around the eyes.

[Darier's erythema annulare centrifugum of neonatal onset with a 15 years' follow-up. Efficacy of interferon and role of cytokines]. / Erythème annulaire centrifuge de darier à ddebut néonatal avec 15 ans de suivi. Efficacité de l'interféron et rôle de cytokines.

INTRODUCTION: Darier's erythema annulare centrifugum (EAC) is a disease of unknown etiology. Some observations of EAC in infancy suggest a better prognosis for early EA. The observations presented herein gives different information regarding prognosis and pathogenesis. OBSERVATION: A child presents with typical lesions of EAC from early infancy up to the age of 15 years. Laboratory data are normal. Similar lesions were locally reproduced by intradermal injection by candidine but antifungal drugs were unsuccessful. Many antiinflammatory treatments failed to improve the disease. Because of the improvement during hyperthermic episodes, a treatment by subcutaneous interferon alpha (2 millions U 3 times a week) was given for six months with a dramatic success (with seric increase of TNF alpha and IL2) DISCUSSION: The long term duration of EAC suggests that EA of infancy may represent the early beginning of Darier's EAC. The efficacy of interferon suggests that cytokines are involved in the pathogenesis of EAC.

[Cutaneous lesions during the 1st week of life in 306 consecutive newborn infants]. / Lésions cutanées au cours de la première semaine de vie chez 306 nouveau-nés consécutifs.

The authors report the results of a systematic study of the skin conducted during three months in 306 neonates born in a hospital maternity unit in the Hauts-de-Seine departement, France. Two hundred and ninety-nine infants could be examined: 91 (30.5 p. 100) developed erythema toxicum neonatorum; 102 (34 p. 100) had port wine naevus; 42 (14 p. 100) mongolian spot, and 10 (3.5 p. 100) pigmented epidermal naevus. Various other abnormalities were found. These findings are compared with those of previous French (5, 14) and foreign (1, 3, 7-11, 13, 16, 17-19) studies.