Enfrentamiento anestésico de paciente con picnodisostosis: a propósito de un caso / Anesthetic coping of a patient with pycnodysostosis: about a case

Pycnodysostosis is a rare autosomal recessive disease with osteoarticular manifestations of great relevance in anesthetic practice. People with this disease are more prone to fractures and craniofacial anomalies that anticipate a difficult-to-manage airway. We present the case of a 19-year-old woman with pycnodysostosis who underwent a reductive mammoplasty under general anesthesia. (AU)

Picnodisostosis familiar, reporte de un caso tras 10 años de seguimiento / Family picnodisostosis, report of a case after 10 years of follow-up

Resumen: Introducción: La picnodisostosis es una rara enfermedad secundaria en una mutación en el gen 1q21 que codifica la catepsina K, enzima implicada en el metabolismo de osteonectina, osteopontina y colágeno I. La incidencia mundial es de 1-1.7 casos por millón, sin prevalencia por género, se caracteriza clínicamente por talla baja, deformidades craneales, «cara de pájaro¼ y fragilidad ósea con tendencia a fracturas patológicas, que afectan predominantemente los huesos largos y ocasionalmente en los pedículos vertebrales. Radiológicamente es característica la presencia de osteoesclerosis con canales medulares permeables. Aunque existen numerosos reportes de casos clínicos en la literatura, pocos son los que describen familias con más de un individuo afectado y el seguimiento suele ser a corto plazo. Objetivo: Analizar la evolución clínica de los pacientes afectados. Material y métodos: Se realizó estudio retrospectivo, descriptivo, observacional de tres pacientes con diagnóstico de picnodisostosis, en el período de Julio 2006 a Marzo de 2016. Resultados: Se observaron diferentes formas de afectación de la picnodisostosis, algunas de ellas atípicas como la espondilólisis y una fractura de escápula en una paciente. Conclusiones: El presente estudio podría ser el análisis longitudinal más extenso del que se tenga registro. Conocer la variedad de manifestaciones y complicaciones presentadas permitirá al lector seleccionar el mejor método de tratamiento para cada caso.

Abstract: Introduction: Pycnodysostosis is a rare disease secondary to a mutation in gen 1q21 that codifies the cathepsin K, proteolitic enzyme implicated in the metabolism of osteonectin, osteopontin and type I colagen. Its global incidence is around 1-1.7 cases per million, without genre prevalences, it is clinically caracterized by short stature, craneal deformities, «bird's face¼ and bone fragility with pathological fractures tendency predominantly affecting long bones and occasionally vertebral pedicles. Radiologically is characterized by sclerous bones with permeable medular cannel. Despite there are numerous clinical reports on medical literature, just a litlle describe families with more than one afected member and its followship is usually short-term. Objective: To analize clinical evolution of these afected patients. Material and methods: A retrospective, descriptive, observational study was reelized in three patients with diagnosis of pycnodisostosis, between July 2006 and March 2016. Results: different affection forms of pycnodisostosis where observed, some of them, atipical, as for example spondilolisis and a escapule fracture in one patien. Conclusions: The present study could be the longest longitudinal report ever registered. By knowing the presented variety of manifestations and complications, the reader could select the best treatment method for each case.

Manejo de fractura en hueso patológico en la infancia: picnodisostosis / Management of fractures in pathological bone in childhood: pycnodysostosis

La picnodisostosis es una enfermedad poco común que pertenece a las displasias esqueléticas que presentan fragilidad ósea y fracturas frecuentes. Radiológicamente se caracteriza por incremento de la densidad y fragilidad óseas. OBJETIVO: Presentar el caso de un escolar con displasia esquelética con fracturas en hueso patológico y manejo quirúrgico. CASO CLÍNICO: Escolar de sexo femenino, con antecedente de picnodisostosis detectado en etapa preescolar. Consulta posterior a caída de bicicleta con fractura de ambos fémures que se manejan quirúrgicamente con placa de compresión bloqueada.

Pycnodysostosis is a rare condition within skeletal dysplasias presenting with brittle bones and frequent fractures. Radiologically, it is characterised by increased bone density and fragility. OBJECTIVE: To present the case of a primary schoolchild with skeletal dysplasia with pathological bone fractures and their surgical management. CASE REPORT: A female primary schoolchild with a history of pycnodysostosis detected during the pre-school period. She was seen after bicycle fall that resulted in the fracture of both femurs, that were surgically managed with a locking compression plate.

Fracturas múltiples de huesos largos en una escolar portadora de picnodisostosis: Reporte de caso / Multiple long bone fractures in a child with pycnodysostosis: A case report

Las fracturas en edad pediátrica son una entidad importante para considerar. Hay enfermedades en que los huesos del niño se fracturan ante traumatismos de menor energía. La picnodisostosis es un tipo inusual de displasia cráneo-metafisaria autosómica recesiva, cuya primera manifestación clínica suele ser una fractura en hueso patológico. Se presenta a una paciente, caucásica, de 9 años de edad, con diagnóstico de picnodisostosis, que ingresó al hospital por fractura del fémur derecho, por un mecanismo de baja energía. Los estudios radiográficos mostraron fracturas del fémur bilateral, fractura proximal de la tibia izquierda y consolidación viciosa en antecurvatum. Esta rara enfermedad se diagnostica a edades tempranas por talla baja, por fracturas repetidas o por traumas de baja energía. Las opciones terapéuticas son limitadas, y no se ha desarrollado una cura definitiva. Es importante, ante un paciente pediátrico con rasgos dismórficos faciales y fracturas en hueso patológico, sospechar displasias óseas, tales como la picnodisostosis y sus diagnósticos diferenciales.

Fractures are an important entity to consider in pediatric patients. There are certain diseases in which bones fracture with a minimal trauma. Pycnodysostosis is an autosomal recessive unusual type of cráneo metaphyseal dysplasia, that presents frequently as fracture in a pathological bone. A 9 year old caucasian female, diagnosed with pycnodysostosis, was admitted with a right femur fracture as a result of a low energy trauma. Radiographic studies showed bilateral femur fractures, proximal fracture and non-union in antecurvatum of the left tibia. Pycnodysostosis is a rare disease, generally diagnosed at an early age by growth restriction, frequent fractures or fractures with low energy trauma. Therapy alternatives are limited, and no permanent cure has been developed. If a patient has dysmorphic facial features and fractures in a pathological bone, it is important to suspect bone dysplasia, such as pycnodysostosis and its differential diagnoses.

Pycnodysostosis with Multi-Segmental Spinal Canal Stenosis due to Ossification of the Yellow Ligament

Pycnodysostosis is an autosomal recessive disorder characterized by osteosclerosis, small stature, acro-osteolysis of the distal phalanges, loss of the mandibular angle, separated cranial sutures with open fontanels, and frequent fractures. One identified cause of the disease is reduced activity of the cysteine protease cathepsin K. A 48-year-old woman with a history of frequent fractures presented with a severe gait disturbance. Radiography, computed tomography, magnetic resonance imaging, and gene analysis were performed. Physical examination revealed open fontanels, and radiographs showed increased bone density. DNA sequence analysis revealed a deletion mutation of the cathepsin K gene. We diagnosed pycnodysostosis based on these findings. The magnetic resonance and computed tomography images demonstrated multilevel spinal canal stenosis due to ossification of the yellow ligament. We performed a laminectomy, and the patient's neurological signs and symptoms improved. To our knowledge, this is the first case of pycnodysostosis with ossification of the yellow ligament.

Picnodisostosis y fractura femoral: reporte y seguimiento a 2 años / Pycnodysostosis and femoral fracture: report and two-year follow-up

La Picnodisostosis consiste en un raro trastorno genético caracterizado por esclerosis ósea sistémica, cuya fisiopatología se debe a una deficiencia catepsina K, enzima esencial en la remodelación ósea. El problema ortópedico más importante en esta condición son las fracturas recurrentes de los huesos largos. Clínicamente se presenta con osteoesclerosis, talla baja, acroosteolisis de falanges distales, displasias ungueales, displasia clavicular, deformidades craneales secundarias al retardo en el cierre de suturas y fontanelas; miembros cortos, micrognatia, maxilar superior obtuso e inferior aplanado, retraso en la aparición de los dientes; y fragilidad ósea con tendencia a las fracturas. Se presenta caso de mujer de 27 años con Picnodisostosis, en control en Servicio de Traumatología Adulto Hospital Gustavo Fricke. Damos a conocer su historia clínica, desde el diagnóstico de su enfermedad, hasta las complicaciones y tratamientos ortopédicos y quirúrgicos de sus fracturas recurrentes...

Pycnodysostosis is an uncommon genetic malformation characterized by systemic bone sclerosis, whose pathophysiologyis due to essential enzyme deficiency in bone remolding, cathepsin K. The most relevant orthopedic problems of this condition are the recurrent long-bones fractures. A clinical case is presented: 27 year old, female patient controlling at the Adult Traumatology Service in Hospital Gustavo Fricke. We present her clinical story from diagnose to the fracture’s complications and treatments, orthopedic and surgical...

Morphological features of pycnodysostosis with emphasis on clinical and radiographic maxillofacial findings / Características morfológicas de la picnodisostosis con énfasis en hallazgos clínicos y radiológicos maxilofaciales

Pycnodysostosis is a rare genetic syndrome characterized by short stature, obtuse mandibular angle, frontal, parietal and occipital bossing, open fontanels and cranial sutures, midfacial hypoplasia, acro-osteolysis of the distal phalanges, increased bone density, absence or hipopneumatization of the paranasal sinuses and normal laboratory studies. We report the case of a 35-year-old Brazilian man that was referred to a private clinic with history of dysmorphic facies for evaluation. The clinical and radiological features exhibited by the patient led to a diagnosis of pycnodysostosis. We describe the morphological features of pycnodysostosis with emphasis on the clinical and radiographic maxillofacial findings comparing the data obtained from our case with a literature review.

La picnodisostosis es un síndrome genético raro caracterizado por baja estatura, ángulo de la mandíbula obtuso, prominencias frontal, parietal y occipital, suturas craneales y fontanelas abiertas, hipoplasia del tercio medio de la cara, acroosteolisis de las falanges distales, aumento de la densidad ósea, ausencia o hiponeumatización de los senos paranasales y exámenes de laboratorio normales. Se presenta un caso de paciente brasileño, 35 años de edad, sexo masculino, remitido a clínica privada con historia de facies dismórfico para evaluación. Las características clínicas y radiológicas exhibidas por el paciente llevaron al diagnóstico de picnodisostosis. Se describe las características morfológicas de la picnodisostosis con énfasis en los hallazgos clínicos y radiológicos maxilofaciales, comparando los datos obtenidos en nuestro caso con los hallazgos reportados en la literatura revisada.

Rickets-like genetic diseases / 中国当代儿科杂志

This paper summarizes the clinical features, causative genes and treatment progress of patients with rickets-like genetic diseases, including X-linked hypophosphatemic rickets (XLH), hypophosphatasia, achondroplasia, vitamin D-dependent rickets, pycnodysostosis and ectodermal dysplasia, who visited the pediatric or child health clinic due to the symptoms of rickets, including bow legs, delayed closure of the anterior fontanelle, and sparse hair. Children with XLH usually go to hospital for bow legs and short stature, and biochemical evaluation reveals significantly low serum phosphorus so it is easily diagnosed. This disease is treated using phosphate mixture and 1,25(OH)2D3, which is different from the treatment of nutritional vitamin D deficiency rickets. Hypophosphatasia is characterized by a significant decrease in serum alkaline phosphatase, as well as normal serum calcium and phosphorus. The disease is caused by mutations in TNSALP gene. Patients with achondroplasia show short-limbed dwarfism and special face in addition to bow legs, but with normal serum calcium, phosphorus and alkaline phosphatase. Bone X-ray and FGFR3 gene test contribute to the diagnosis. Vitamin D-dependent rickets is an autosomal recessive disease, and active vitamin D supplement is effective in treatment of the disease. Patients with pycnodysostosis may be first seen at hospital because of large anterior fontanelle; in addition, they also show obtuse mandibular angle, dental abnormalities and dysplastic nails, which are caused by mutations in TSK gene. Children with ectodermal dysplasia may see a doctor for sparse hair, and they are easily misdiagnosed with nutritional vitamin D deficiency rickets. Ectodermal dysplasia is related to EDA, EDAR, EDARADD and WNT 10A genes.

Oral Cavity — A Window to Systemic Illness.

Oral cavity very often has been described as reflection of our body as most of the initial clinical symptoms occur in oral cavity. The current paper also focuses on the oral presentation of the systemic condition called Pyknodysostosis (MIM 265800) which is a rare, autosomal recessive skeletal dysplasia characterized by short stature, wide cranial sutures, and increased bone density and fragility was first described in 1962 by Maroteaux and Lamy under the heading of diastrophic dwarfism.

Pyknodysostosis: report of a rare case with review of literature

Pyknodysostosis is a rare autosomal recessive disorder characterized by the post natal onset of short limbs, short stature, and generalized hyperostosis along with acro-osteolysis with sclerosis of the terminal phalanges, a feature that is considered essentially pathognomonic. Other features include persistence of fontanelles, delayed closure of sutures, wormian bones, absence of frontal sinuses, and obtuse mandibular gonial angle with relative mandibular prognathism. We report a case of 17-year-old girl who presented with a chief complaint of retention of deciduous teeth. General physical examination demonstrated short stature, frontal and parietal bossing, depressed nasal bridge, beaked nose, hypoplastic midface, wrinkled skin over the finger tips, and nail abnormalities. Radiographs showed multiple impacted permanent and supernumerary teeth, hypoplastic paranasal sinuses with acro-osteolysis of terminal phalanges, and open fontanelles, and sutures along with wormian bones in the lambdoidal region.

Pycnodysostosis: A case report / 대한정형외과학회잡지

Maroteaux and Lamy coined the term Pycnodysostosis derived from the Greek, Pycnos (thick or dense), Dys (defective), and Ostosis (bone). The principal characters of this syndrome are short stature, dysplasis of the skull, obtuse manibular angle, dysplastic clavicles,partial or total aplasia of the terminal phalanges, and generalized increased roentgenographic density of the skeleton. Patient so affected are predisposed to fracture. Pycnodysostosis seems to be a genetic disorder, inherited as an autosomal recessive trait. Here, it is reported a case of incidental finding of pycondysostosis with chronic renal failure in 12 years old girl.

A Case of Pycnodysostosis

A case of pycnodysostosis in 12 years old girl was presented with a brief review ofliterature. This patient was admitted to our pediatric dept. of N.P.H. with chief complaints of loss of appetite and respiratory difficulty. She was characterized by a peculiar face with anterior bossing, exophthalmos, opened anterior fontanel and coronal suture and dwarfism. So bone series was performed and showed character of pycnodysostosis such as opened anterior fontanel and coronal suture, receding mandibular angle, inoreased bone density with narrowing bone marrow and acrcosteolytica on distal phalanx. But she died on the 25 th hospital day due to chronic renal failure.