Usefulness of the skin biopsy as a tool in the diagnosis of silvery hair syndrome.

BACKGROUND/OBJECTIVES: Silvery hair syndrome is a rare, autosomal-recessive entity characterized by silvery gray hair, eyebrows, and eyelashes and may be associated or not with immunologic or neurologic alterations. Two main types have been recognized: Chediak-Higashi syndrome and Griscelli syndrome. Hair shaft examination under light microscopy has been a useful tool to differentiate Chediak-Higashi syndrome from Griscelli syndrome, although distribution of melanin varies according to hair color related to ethnicity. The objective was to compare the pattern of melanin in the skin and with the pattern of melanin distribution in the hair shaft. METHODS: Sixteen patients with silvery hair syndrome were selected (Chediak-Higashi syndrome 5, Griscelli syndrome 11). The distribution of melanin granules in skin and hair shafts was compared and correlated with clinical diagnoses. RESULTS: Chediak-Higashi syndrome was characterized by small granules of melanin uniformly distributed throughout the thickness of the epidermis. Griscelli syndrome was characterized by an irregular pigment distribution in the epidermal basal layer with large and dense granules alternating with areas lacking melanin pigment. In two cases, study of the hair was not conclusive, but the skin showed the characteristic pattern of Griscelli syndrome. CONCLUSION: Skin biopsy is a useful tool in differentiating Chediak-Higashi syndrome from Griscelli syndrome and as a complementary study in cases in which hair shaft pigment distribution does not support the diagnosis, especially in patients with fair hair. The distribution of melanin granules in the skin correlates with that observed in the hair shaft, allowing Chediak-Higashi syndrome to be differentiated from Griscelli syndrome, at any age.

Rhabdomyomatous Mesenchymal Hamartoma: A Deep Subcutaneous Lesion in the Sternoclavicular Area.

Cutaneous rhabdomyomatous mesenchymal hamartoma (RMH) is a rare benign tumor composed of two or more types of mesenchymal-derived cells. RMHs are generally sporadic and independent, but they can be associated with congenital abnormalities. We report a subcutaneous case of RMH in the sternoclavicular area with two recurrences after complete surgical excision. The course is variable and can range from spontaneous resolution to repeated recurrences.

Hydroa vacciniforme-like lymphoma: a chronic EBV+ lymphoproliferative disorder with risk to develop a systemic lymphoma.

Hydroa vacciniforme-like lymphoma (HVLL) is an Epstein-Barr virus (EBV)-positive T-cell lymphoproliferative disorder of childhood that occurs mainly in Central and South America and Asia. We present the clinicopathological features of 20 Mexican children with HVLL with a median age of 8 years at diagnosis (range, 1-15). All patients presented with skin lesions involving sun-exposed areas, but not exclusively. Fever, lymphadenopathy, and hepatosplenomegaly were often observed. Most patients were treated with immunomodulators and/or immunosuppressive agents, resulting in temporary remission. For 13 patients follow-up was available for a median of 3 years (range, 1 month-13 years). Three patients with long follow-up (9-13 years) are alive with disease. Four patients died, 2 after developing systemic lymphoma. Histologically, the skin showed a predominantly angiocentric and periadnexal Epstein-Barr early RNA+ lymphoid infiltrate with variable atypia and subcutaneous involvement. Fifteen patients showed a T-cell phenotype (12, αß; 2, γδ; 1, silent phenotype) and monoclonal T-cell receptor-γ rearrangements, whereas 6 exhibited a natural killer (NK)-cell phenotype. Four patients had hypersensitivity to mosquito bites. One patient showed both phenotypes. HVLL is an EBV-associated lymphoproliferative disorder of αß-, γδ-, or NK-cell phenotype with a broad clinical spectrum, usually prolonged clinical course, and risk for progression to systemic disease.

Dermoid cysts: a report of 75 pediatric patients.

Dermoid cysts (DCs) are benign cutaneous tumors that tend to persist and grow. The aim of this study was to examine the clinicopathologic features of congenital DCs. We present a case series of 75 children with a clinicopathologic diagnosis of DC. Seventy-two cysts were located on the head, one on the neck, and two on the trunk. Six cysts were located along the midline. Eight patients had symptoms other than changes in cyst size. Imaging studies were performed on 15 patients. Surgical excision was the primary treatment in all 75 cases. Neurosurgery and ophthalmology services were involved in the care of some patients. Histopathologic studies reported a foreign body giant cell reaction in 17 of the cysts. No recurrence was documented. DCs can remain stable for years, but they can become symptomatic as a result of enlargement and rupture or, more rarely, as a result of extension into surrounding tissues. Physicians should be aware that certain locations have a higher risk of DC extension, and adequate diagnostic investigations should be performed before their complete resection.

Common Dermatoses in Children Referred to a Specialized Pediatric Dermatology Service in Mexico: A Comparative Study between Two Decades.

Background. Skin diseases among pediatric patients differ from those in adults. Epidemiological studies are scarce, and those performed in Mexican population date back thirty years. It is likely that these diseases might have changed their frequency. Material and Methods. Retrospective study in first-time patients referred to a pediatric dermatology service between January 1994 and December 2003. Demographics and diagnosis were recorded and compared with the results of a previous study performed in the same institution. Results. We included 5250 patients (52.55% female, 47.47% male) with 6029 diagnoses. The most frequent dermatoses found were atopic dermatitis (14.59%), viral warts (6.62%), acne (5.53%), pityriasis alba (3.98%), melanocytic nevi (3.85%), xerosis (3.57%), keratosis pilaris (3.19%), seborrheic dermatitis (2.37%), hemangioma (2.26%), and papular urticaria (2.24%). Most dermatoses increased their frequency when compared to the previous study. Conclusion. The frequency of pediatric dermatoses in our institution has changed in the last two decades. Environmental and sociocultural factors and institutional policies might account for these results.

Sarcoidosis de inicio temprano: Rastreo de casos nuevos en pacientes previamente diagnosticados con artritis idiopática juvenil / Sarcoidosis of early onset: Tracking new cases in patients previously diagnosed with juvenile idiopathic arthritis

Introducción: La sarcoidosis es una enfermedad granulomatosa crónica y multisistémica, de etiología desconocida. En pacientes pediátricos tiene dos formas de presentación: el síndrome clásico con afección del pulmón y ganglios linfáticos, y la sarcoidosis de inicio temprano (SIT), caracterizada por la tríada: uveítis, artritis y erupción cutánea papular. Se han comunicado varios casos de SIT que inicialmente fueron diagnosticados como artritis idiopática juvenil (AIJ), su principal diagnóstico diferencial. Después de la detección de dos casos de SIT en pacientes con diagnóstico previo de AIJ seronegativa, decidimos rastrear nuevos casos dentro de este grupo de pacientes en nuestra institución, por las posibles repercusiones sistémicas de la sarcoidosis.Material y método: Estudio observacional, descriptivo y transversal realizado en el Instituto Nacional de Pediatría, en el que se rastrearon posibles casos de SIT entre 597 pacientes con diagnóstico inicial de AIJ. Resultados: Se detectó un posible caso de SIT entre los pacientes investigados, pero no se confirmó la enfermedad por datos histológicos.Discusión: Recomendamos sospechar el diagnóstico de SIT en los pacientes menores de cuatro años con un síndrome artrítico. Además, consideramos importante el seguimiento de los pacientes con AIJ seronegativa que hayan iniciado su enfermedad antes de los cuatro años de edad por la posibilidad de que realmente sea una SIT, considerando que puede derivar en complicaciones sistémicas que ponen en peligro la vida del paciente.

Introduction: Sarcoidosis is a multisystemic, chronic and granulomatous disease of unknown etiology. In pediatric patients it has two forms of presentation: the classic syndrome with pulmonary involvement and lymph node disease, and early onset sarcoidosis (EOS), characterized by a triad of uveitis, arthritis and papular skin rash. Several cases of EOShave been initially misdiagnosed as juvenile idiopathic arthritis (JIA), its main differential diagnosis. After having detected two cases of EOS previously diagnosed as JIA we decided to seek for new cases of EOS among patients with the diagnosis of seronegative JIA.Material and method: An observational, descriptive and cross-sectional study was performed on 570 patients previously diagnosed with JIA looking for possible cases of EOS at the National Institute of Pediatrics.Results: A possible case of EOS was detected in the investigated patients, but the disease was not confirmed by histological data on skin biopsy.Discussion: We suggest EOS should be considered in patients under four years of age when evaluated for idiopathic arthritis. Patients diagnosed with seronegative JIA having initiated their disease before the age of four years should be carefully follow-up due to the possibility of a misdiagnosis, since EOS can be a life-threatening disease.

Less common clinical manifestations of atopic dermatitis: prevalence by age.

The common manifestations of atopic dermatitis (AD) appear sequentially with involvement of the cheeks in infancy, flexural extremities in childhood, and hands in adulthood. Although less common clinical manifestations are well described, they have not been the subject of epidemiologic studies to describe their prevalence in specific age groups. This observational, cross-sectional, comparative study included 131 children younger than 18 of both sexes with AD who attended the clinics of the Dermatology Department of the National Institute of Pediatrics in Mexico City. Patients were examined to determine the presence of infrequent clinical manifestations of AD during infancy, preschool and school age, and adolescence and stratified according to sex, age, and number of clinical signs. A chi-square test was used to detect differences according to age and sex. Logistic regression analysis was also performed. The main findings according to age were genital dermatitis and papular-lichenoid dermatitis variant in infants; atopic feet, prurigo-like, nummular pattern, and erythroderma in preschool and school-aged children; and eyelid eczema and nipple dermatitis in adolescents. The risk of development of nipple dermatitis and eyelid eczema increased with age, and the development of genital dermatitis decreased with age. The knowledge of the prevalence of less common clinical manifestations of AD according to age in different populations might be helpful in diagnosing incipient cases of AD.

Congenital cutaneous angioleiomyoma.

Congenital cutaneous angioleiomyoma is an extremely rare benign smooth muscle tumor. We present a case of a firm, painful subcutaneous mass noticed at birth on the left leg that on surgical excision proved to be an angioleiomyoma. Prognosis is good, and recurrences are uncommon. To our knowledge, this is the second report of a congenital angioleiomyoma.

Hypomelanotic conditions of the newborn and infant.

Depigmented nevi, pityriasis alba, and postinflammatory hypopigmentation are the most frequent hypomelanotic conditions in newborns and infants. These, and examples of less frequent hypopigmentations are briefly discussed in this article. A new classification for depigmented nevi is also proposed.

Keratosis lichenoides chronica in pediatric patients: a different disease?

Keratosis lichenoides chronica (KLC) is a rare acquired disease of adulthood, of unknown etiology, characterized by keratotic parallel linear lesions, retiform plaques, and keratotic, often follicular papules, chronicity and lichenoid histopathologic features. KLC of pediatric onset is considered extremely rare. Its features and relationship to adult onset KLC are unknown. We studied 8 cases of pediatric-onset KLC in the literature and 6 personal cases and compared them with 40 reported adult-onset KLC patients. The following features characterize pediatric-onset KLC: familial occurrence; probable autosomal recessive inheritance; early or congenital onset with facial erythemato-purpuric macules; forehead, eyebrow, and eyelash alopecia; pruritus; and a low frequency of other cutaneous and systemic abnormalities. Pediatric-onset KLC may represent a different disease or a subset of adult-onset KLC, with special genetic and clinical characteristics. Determining its precise nosology will have prognostic and therapeutic implications.

Medallion-like dermal dendrocyte hamartoma: a new clinically and histopathologically distinct lesion.

Dermal dendrocyte hamartomas are extremely rare; only two examples have been described with clinical features different from our cases and with incomplete immunohistochemical characterization. We report three female patients presenting a medallion-shaped, well-defined, slightly atrophic and asymptomatic congenital lesion. All 3 patients showed a fusiform-cell proliferation. Immunohistochemistry was positive for CD34, factor XIIIa, and fascin. Electron microscopy showed typical features of dermal dendrocytes. We believe that the lesions described represent a new, clinically and histopathologically distinct lesion originating in dermal dendrocytes. We propose to name it medallion-like dermal dendrocyte hamartoma.

Epidermal nevus syndromes: clinical findings in 35 patients.

Of the patients with epidermal nevi, 10-18% may have disorders of the eye, nervous, and musculoskeletal systems. A predisposition to malignant neoplasms in ectodermal and mesodermal structures may also be found. There are six different epidermal nevus syndromes described so far: Proteus, congenital hemidysplasia with ichthyosiform nevus and limb defect syndrome, phakomatosis pigmentokeratotica, sebaceous nevus, Becker nevus, and nevus comedonicus. Thirty-five patients with epidermal nevus syndrome seen at the National Institute of Pediatrics in Mexico City during a 31-year period are described. This syndrome represented 7.9% of 443 patients with epidermal nevi; its relative frequency was 1 case per 11,928 pediatric patients and 1 case per 1080 dermatologic patients. Nine epidermal nevus syndrome patients (26%) had Proteus syndrome. Sebaceous nevus syndrome was found in six patients (17%), while the nevus comedonicus syndrome was found in three (8%). Two patients were diagnosed with phakomatosis pigmentokeratotica and one patient with congenital hemidysplasia with ichthyosiform nevus and limb defect syndrome. This is the first report of phakomatosis pigmentokeratotica and congenital hemidysplasia with ichthyosiform nevus and limb defect syndrome in Mexican patients. One patient had an inflammatory linear verrucous epidermal nevus with systemic involvement. Thirteen patients (37%) had keratinocytic nevi with systemic involvement. We propose the keratinocytic nevus syndrome to be defined as the association of a keratinocytic nevus with neuronal migration and/or musculoskeletal disorders in addition to a higher risk for mesodermal neoplasms.