Focal dermal hypoplasia [Goltz syndrome]

Focal Dermal Hypoplasia [FDH] is a condition of multiple features. It is important to recognize on clinical grounds, as it may show life threatening complications that need to be dealt with by properly timed interventions. A seven year old girl presented with a skin lesion that was present since birth It was distributed on the forehead, chest, upper abdomen, and buttocks .All four limbs were also involved .It consisted of linear areas of thinning of the skin, in which there was herniation of fatty tissue in the form of yellow papules, together with dyspigmentation and telangiectasia. The nails were dystrophic. There was complete syndactyly of the left second and third toes, and partial fusion of the right second and third toes. The teeth were all defective and many were carious. There are between 200-300 cases reported in literature, so it is not a rare condition. They are mostly females, as affected males do not usually survive. Papillomas in different sites may be symptomatic and require surgical intervention. It is a sex linked dominant condition associated with mutation of PORCN gene mapped to locus Xpll.23

Split hand/split foot deformity with focal dermal hypoplasia [Goltz syndrome]

We report on a-6-months-old girl who manifested the phenotypic features of focal dermal hypoplasia. Significant limb deformities in connection with typical skin changes were documented. The family history had a high frequency of spontaneous abortions and male stillbirths. Male stillbirths are a landmark in favour of X-linked dominant pattern of inheritance. Despite the severe hand/foot deformities, the skull base and the tubular bones were sclerotic

Hipoplasia focal ectodérmica o síndrome de Goltz: manejo ortopédico témporomandibular / Focal dermal hypoplasia or Goltz síndrome: temporomandibular orthopedic management

El desarrollo embrionario es un conjunto de procesos que dan origen al organismo y en particular al macizo craneofacial. Se pueden producir múltiples alteraciones del desarrollo, dentro de las cuales está el Síndrome de Goltz. Se realiza el estudio de una paciente de sexo femenino de 21 años de edad, portadora de este síndrome, la que presenta alteraciones cutáneas, óseas y musculares. Estas se manifiestan principalmente por la falta de desarrollo del macizo craneofacial en el lado izquierdo (gran asimetría facial). A nivel dental se observa microdoncia, hipoplasia del esmalte, y una gingivitis generalizada. Asociado a este síndrome la paciente presentaba un trastorno temporomandibular severo, dolor de cabeza, dolor de oídos, mareos, sordera en el oído izquierdo y mala calidad de sueño. Es tratada durante seis meses con un plano oclusal con mayor altura de trabajo en el lado izquierdo, para estimular el trabajo muscular y descomprimir los tejidos de la ATM. Posteriormente se realiza un tratamiento de rehabilitación dental integral para lograr una estabilidad oclusal y mantener la posición mandibular. Con el tratamiento se logra un desarrollo músculo esqueletal del lado izquierdo, compensando la asimetría facial, mejoran los síntomas asociados a la patología témporomandibular, como el dolor de cabeza, la sordera izquierda y el funcionamiento articular. Podemos concluir que el Síndrome de Goltz afecta estructuras corporales y craneofaciales, provocando en esta paciente alteraciones cutáneas, esqueletales y un trastorno témporomandibular severo. El tratamiento con un aparato ortopédico permitió equilibrar el trabajo muscular del sistema craneocervicomandibular, mejorando la patología témporomandibular y los síntomas asociados.

The origin of craniofacial structures is a complex embryonary process. There could be different growth alterations of it; one of them is Goltz Syndrome. We report a case of a female patient, 21 years old who present skin, bone and muscular alterations. This alteration is mainly in the left craniofacial structures, resulting in facial asymmetry. She also presented microdontia, enamel hypoplasia, and generalized gingivitis. A severe Temporomandibular disorder (TMD) was also associated with headaches, earaches, dizziness, deafness in the left ear and poor sleep quality. She was treated for 6 months with an occlusal splint, higher in the left side to stimulate the muscular activity and give some relief to the left TMJtissues. Subsequently, a complete oral rehabilitation treatment was performed to achieve occusal stability and to perpetuate the mandibular position. After the treatment, the patient presented more development in the left muscular and skeletal structures, improving the facial symmetry, and eliminating headaches, earaches, dizziness, deafness in the left ear and poorsleep quality.

Hipoplasia dérmica focal: síndrome de Goltz / Focal dermal hypoplasia: Goltz syndrome

Presentamos una paciente de un año y medio de edad con manifestaciones clínicas de hipoplasia dérmica focal (síndrome de Goltz), las cuales se confirmaron con el estudio histológico. Realizamos una revisión de la literatura referente a la enfermedad