Síndrome hipoplasia cartílago-cabello: reporte de caso / Cartilage-hair hypoplasia syndrome: a case report

El síndrome hipoplasia cartílago cabello también conocido como condrodisplasia Metafisiaria tipo Mc Kusickes una enfermedad autosómica recesiva que presenta múltiples manifestaciones fenotípicas, tales como talla baja con miembros cortos, alteraciones osteocondrales, extremidades cortas, vello corporal y cabello fino y escaso, piernas relativamente cortas con arqueamiento de los fémures, manos cortas y uñas pequeñas, defectos variables en la inmunidad celular y predisposición a una variedad de neoplasias. El manejo médico de estos pacientes requiere un enfoque multidisciplinario con especialistas en hematología, genética, nutrición y estomatología pediátrica. Se reporta el caso de un paciente con este síndrome al cual fue rehabilitado en el servicio de Odontopediatría del Departamento de Estomatología del Hospital Infantil de México Federico Gómez.

Kusick type is an autosomal recessive disease, has multiple phenotypic manifestations such as hypoplastic hair, short stature, osteochondral abnormalities, short limbs, fine and sparse hair, thin body hair scares relatively short legs with bow femurs, short hands and nails small defects in cellular immunity variables and predisposition to a variety of neoplasm. Management of these patients requires a multidisciplinary approach with specialists in hematology, genetics nutrition and pediatric dentistry. This case report describes phonotypical manifestations of patient with this syndrome who received dental treatment in the Pediatric Dentistry Service at Hospital Infantile de Mexico Federico Gómez .

Pelo lanoso generalizado: reporte de un caso / Generalized woolly hair: case report

Introducción: El pelo lanoso (PL) es una rara alteración del tallo piloso que puede ser localizada o generalizada y puede asociarse a alteraciones cutáneas o extracutáneas. Objetivo: Analizar un cuadro clínico de muy escasa frecuencia y enfatizar la importancia del examen físico en el enfrentamiento de ésta. Caso clínico: Preescolar de tres años de edad con pelo fino, claro, corto y rizado. En los antecedentes familiares, destacaba la madre con historia de alopecia desde la infancia y disminución de la velocidad de crecimiento del pelo del cuero cabelludo; cuadro compatible con pelo lanoso generalizado forma hereditaria, sin anomalías asociadas. Conclusiones: El pelo lanoso es una rara anormalidad del tallo piloso. El diagnóstico de certeza se obtiene mediante la microscopía electrónica, sin embargo, el uso de la dermatoscopía constituye una buena herramienta diagnóstica en la práctica diaria. Puede asociarse a anomalías cutáneas y extracutáneas, por lo cual el enfrentamiento clínico y estudio complementario es primordial para descartar anomalías asociadas.

Introduction: Woolly hair (WH) is a rare abnormality of the hair shaft that can be localized or generalized and may be associated with cutaneous or extracutaneous abnormalities. Objective: To analyze a rare clinical case and emphasize the importance of physical examination. Case report: A three year old child with fine, light, short and curly hair is reported. Regarding family history, his mother reports alopecia since childhood and decreased growth rate of the hair of the scalp. The clinical picture is compatible with generalized hereditary woolly hair without associated anomalies. Conclusions: Woolly hair is a rare abnormality of the structure of the scalp hair. Electron microscopy allows the definitive diagnosis, however the use of dermoscopy is a practical and effective diagnostic tool in everyday practice.

Woolly hair generalizado: caso clínico e revisão da literatura / Generalized woolly hair: case report and literature review

O termo woolly hair, ou cabelo lanoso, refere-se a uma variante anormal de cabelo, que pode ser parcial ou generalizado. As variantes de woolly hair generalizado são raras e podem ocorrer isoladamente ou associadas a outras alterações cutâneas e extracutâneas. Desta forma, nestes doentes, é necessário a exclusão de certos síndromes, como o de Noonan e cardiofaciocutâneo (CFC), que cursam com importante morbilidade e mortalidade. É descrito o caso clínico de uma criança com woolly hair generalizado e queratose pilar, mas que, após avaliação dos vários órgãos e sistemas, não foi encontrada qualquer alteração ou característica associada a esses síndromes.

The term woolly hair, or tightly curled hair, refers to a structural anomaly of scalp hair, which can be partial or generalized. Generalized woolly hair variants are rare and can occur in isolation or in association with other cutaneous and extra-cutaneous abnormalities. Thus, it is important to dismiss in these patients the diagnosis of syndromes such as the Noonan syndrome and Cardiofaciocutaneous syndrome, which have high morbidity and mortality rates. We report the clinical case of a 7 year-old boy with generalized woolly hair and keratosis pilaris. After an evaluation of organs and systems, no alteration or characteristics associated with these syndromes were found.

Hair tourniquet syndrome

The hair tourniquet syndrome is a rare disorder. This syndrome has been described as involving the fingers, the toes and even the genitals. We report a case of hair tourniquet syndrome affecting multiple toes of an infant. After the hair fiber was removed there was a fast healing period and no signs of tissue necrosis were seen. The prompt diagnosis and treatment of the condition is vital to attain a good outcome and prevent further harm to the child

Tay syndrome.

Tay syndrome or IBIDS is a rare autosomal recessive genetic disorder characterized by congenital ichthyosis and abnormal brittle hair (trichothiodystrophy). Other features include photosensitivity, abnormal nails and multiple developmental defects affecting organs mainly derived from neuroectoderm. The exact prevalence of this condition is not known, but up to 1991, clinical data of 15 cases with IBIDS were published .We report a case of Tay syndrome with additional features of Duane's retraction syndrome and Perthes disease, which have not yet been reported in literature.

First report of Griscelli syndrome from Afghan population in Iran

A 4 month old Afghan male infant presented with partial albinism, hepatosplenomegaly and pancytopenia. Skin and hair shaft microscopic examination revealed large clumped melanosomes and Griscelli syndrome was diagnosed. Unless treated with bone marrow transplantation, it is a fatal disease in accelerated phase. Pediatricians should consider this syndrome in infants with abnormal light hair because early diagnosis could be life saving

Costello syndrome.

Costello syndrome is a rare, distinctive, multiple congenital anomaly syndrome, characterized by soft, loose skin with deep palmar and plantar creases, loose joints, distinctive coarse facial features and skeletal and cardiac abnormalities. The affected patients have a predisposition to develop malignancy, developmental delays and mental retardation. Recently, a 7-year-old male child born to normal nonconsanguineous parents presented to us with abnormal facial features, arrhythmia, mitral valve dysfunction and growth retardation. His cutaneous examination revealed lax and pigmented skin over hands and feet with deep creases, acanthosis nigricans and short curly hairs. Its differentiation from other syndromes with similar clinical features is discussed in this article.

Silvery hair with bronze-tan in a child: A case of Elejalde disease.

A 5-year-old boy was admitted for severe neurological impairment including hypotonia and loss of consciousness without preceding febrile illness. On examination, he had silver colored hair and bronze-tan over photo-exposed body parts. He was born of consanguineous parents and three of his elder siblings, who died in early childhood, had similar colored hair. Complete blood count and serum immunoglobulin levels were within normal limits. Peripheral blood smear did not show any cytoplasmic granules in neutrophils. Cerebro-spinal fluid examination did not reveal any abnormality. Light microscopic examination of the hair revealed irregular clumping of the melanin throughout the shafts. The patient died on the second day following admission. A clinical diagnosis of Elejalde disease was made. The clinical and genetic overlapping of the three silvery-hair syndromes has been discussed.

Clinical and intraoral findings of a patient with tricho-rhino-phalangeal syndrome type I.

Tricho-rhino-phalangeal syndrome (TRPS) is a rare and an autosomal dominant disorder having the following characteristics: slowly growing sparse hair, medially thick and laterally thin eyebrows, bulbous tip of the nose, long flat philtrum and thin upper lip with vermilion border, protruding ears, cone-shaped epiphyses and swelling. Our report intends to introduce TRPS to the dental literature and to present oral, clinical and radiological data of a patient with TRPS. A rare association of supernumerary teeth was also diagnosed and one of them was extracted as it impeded on the eruption path of left premolar tooth.

Naxos disease.

Naxos disease (OMIM 601214) characterized by wooly hair, palmoplantar keratoderma and dilated cardiomyopathy in two Indian children of the same family is described.

Síndrome de rapp hodgkin: a propósito de un caso: Centro de Recuperación Nutricional "Dr. Pastor Oropeza" San Cristóbal Estado Táchira-Venezuela noviembre 2003 / Rapp-Hodgkin syndrome: a purpose of a case: Centro de Recuperación Nutricional Dr. Pastor Oropeza San Cristóbal stado Táchira-Venezuela november 2003

La displasia ectodérmica hereditaria (DEH), representa un grupo de disturbios caracterizados por aplasia o displasia de estructuras y tejidos derivados del ectodermo. Las estructuras generalmente afectadas incluyen el cabello, piel, uñas, dientes y diversas glándulas. Esta condición representa un disturbio raro y se estima su frecuencia de un caso a cada 10.000 ó 100.000 nacimientos. La detección de la DEH en recién nacidos y en los primeros años de la infancia puede ser tarea difícil, debido a pocos cabellos y pelos, así como la ausencia de dientes, son características muy comunes durante esos períodos. Después de los primeros años de vida el diagnóstico es realizado con mayor facilidad, basados en la historia clínica del paciente y el examen físico. Es importante resaltar que en muchas circunstancias la DEH puede presentar características semejantes o hasta estar asociada a otros síndromes, tales como a ectocractilia displasia ectodérmica (EEC), síndrome trico-rino-falangeral y enfermedad de Robinson. El tratamiento de la DEH es exitosa cuando se establece el diagnóstico en el período adecuado o sea en la infancia. Un control multidisciplinario, instituido en los primeros años de vida del paciente, puede minimizar las posibles complicaciones odontológicas y médicas.

Johanson--blizzard syndrome.

Johanson-Blizzard syndrome is an extremely rare ectodermal dysplastic disorder characterized by aplasia or hypoplasia of alae nasi, midline scalp defects, growth retardation, varying degrees of mental retardation, hypothyroidism, exocrine pancreatic insufficiency and congenital deafness. This condition is supposed to be an autosomal recessive disorder. We are reporting a female neonate with the characteristic features and an uncommon less emphasized feature viz. cafe-au-lait spots.

Bjornstad syndrome.

A 9-month-old boy presented with the complaints of loose motion, vomiting and difficulty in breathing. His scalp hairs were thin, brittle, and sparse and were of differing lengths with twisted appearance. Hair shaft microscopy revealed alternate light and dark segments and twisting of the hair shafts by 180 degrees along the axis. Serum copper levels were normal. The audiological testing revealed bilateral sensorineural hearing loss. Child was diagnosed as a case of Bjornstad Syndrome.