Focal Dermal Hypoplasia with Unusual Cutaneous Features

Maymí, María A.; Martín‐García, Rafael F.

doi:10.1111/j.1525-1470.2007.00455.x

Cited by 10 publications

(12 citation statements)

References 22 publications

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“…[7][8][9] GS has a broad spectrum of possible clinical manifestations. [1][2][3][4][5][6][7][8] The main general characteristics are female gender, short stature, mental retardation, asymmetry of the face, trunk and extremities. Cutaneous abnormalities may be characterized by sparse, dry and brittle hair, areas of alopecia on the scalp, anogenital, periungual or perioral papillomas, linear areas of skin hypoplasia, resembling striae, telangiectasia, hypopigmentation or hyperpigmentation following Blaschko lines, subcutaneous herniation, ungual malformations and dystrophy.…”

Section: Discussionmentioning

confidence: 99%

“…Cutaneous abnormalities may be characterized by sparse, dry and brittle hair, areas of alopecia on the scalp, anogenital, periungual or perioral papillomas, linear areas of skin hypoplasia, resembling striae, telangiectasia, hypopigmentation or hyperpigmentation following Blaschko lines, subcutaneous herniation, ungual malformations and dystrophy. [1][2][3] Possible anomalies of soft tissues are protrusion and asymmetry of the ears, hypoplastic helix, umbilical hernia, omphalocele, abnormal kidney and ureter. 5 The oral and dental anomalies described are cleft lip, prognathism, microdontia, enamel defects, irregular spacing, retarded eruption, dental agenesis or dysplasia, gingivitis, median lingual cleft.…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

“…[1][2][3][4][5] The diagnosis is the sum of numerous clinical, radiological findings, and histopathological examinations of skin lesions. 1 In the clinical case under study, there are several different findings comprising the syndrome. The patient has birth defects of ectodermal, mesodermal and endodermal origin, which constitute focal dermal hypoplasia with herniated adipose tissue, oral papillomas, anomalies of the extremities including syndactyly, ectrodactyly and brachydactyly, microphthalmia, defects of dental and oral structures, osteopathia striata, asymmetry of the face and trunk, low-set ears, short stature and mild mental retardation.…”

Section: Discussionmentioning

confidence: 99%

“…Differential diagnosis between GS and anhidrotic and hidrotic ectodermal dysplasia, EEC syndrome (ectrodactyly, ectodermal dysplasia, cleft lip and palate), pigmentary incontinence, and aplasia cutis congenita must be carried out. 1 The treatment consists of a genetic counseling, reconstructive surgery and multidisciplinary approach in order to improve the quality of life of these patients and provide them with a normal and productive life.…”

Section: Discussionmentioning

confidence: 99%

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Urbano

Leal

Costa

2011

An. Bras. Dermatol.

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1Volunteer physician at the outpatient clinic of dermatology at the University Hospital of Brasilia -University of Brasilia (HuB -UnB) -Brasilia (DF), Brazil. CASE REPORTThe patient is an eighteen-year-old female born by cesarean section with multiple congenital malformations in Sao Luis -MA. She had omphalocele repair as a neonate and presents learning difficulty. She is the second daughter of a nonconsanguineous couple with two children; the brother is healthy. Her mother reported three previous miscarriages. The patient displays body asymmetry, kyphoscoliosis, microcephaly, facial asymmetry, right-eyelid ptosis, left microphthalmia, low set ears, protruding ears and auricular cartilage thinning, thinning hair in the right frontoparietal area, dry and brittle hair. ( Figure 1A) Erythematous plaque was present in the upper and lower lip, extending into the oral cavity, with a papillomatous aspect. (Figure 1B) The patient presented only eight teeth, some conical, and lower alveolar bone hypotrophy. Auscultation of the heart revealed systolic heart murmurs 3 + / 6 + in the accessory aortic focus. On the abdomen, she presented median xiphopubic surgical scar. An evaluation of the extremities showed hand asymmetric brachydactyly, digital clubbing, syndactyly of 2nd and 3rd, 4th and 5th right toes, syndactyly of 2nd and 3rd left toes and ectrodactyly of the 4th right toe. (Figures 1C and 1d) She was mixed-race (pardo) and her skin had hypochromic atrophic papules that were confluent, forming dyschromic plaques with areas of brownish crusts and sagging skin on the face, neck, trunk, abdomen, upper and lower limbs following Blaschko lines. A skull radiograph showed a reduction of the craniofacial ratio with anteroposterior diameter, without signs of intracranial hypertension, orbital asymmetry, with reduction of the diameter of the left orbit, mandibular, maxillary and dental changes. A dorso-lumbar spine radiograph revealed left dorsolumbar convex scoliosis and dorsal kyphosis. Radiographs of the skeleton showed cross striations in the distal extremities of the bones of the forearms, femurs, tibias and fibulae. (Figure 2A) Ultrasonography of the kidneys and urinary tract showed mild right calyceal and renal pelvis dilatation. Histopathology of the skin showed epidermal hyperkeratosis, acanthosis and hypergranulosis. The dermis revealed vessel proliferation, mononuclear inflammatory cell infiltrate, areas of fibrosis and subcutaneous tissue extending to the epidermis, showing a marked reduction in dermal thickness. (Figure 2B) The lip lesion was papillomatous with areas of parakeratosis.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Você conhece esta síndrome?

Urbano

Leal

Costa

2011

An. Bras. Dermatol.

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Cognitive and psychological functioning in focal dermal hypoplasia

Deidrick

Early

Constance³

et al. 2016

American J of Med Genetics Pt C

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Focal dermal hypoplasia (FDH) is a condition caused by heterozygous mutation of the PORCN gene on chromosome Xp22.3. It impacts the primitive ectoderm and mesoderm, affecting skin, teeth, nails, hair, musculoskeletal development, and vision and hearing. To date, there has been no systematic research examining the psychoeducational impact of the disorder. The current study examined emotional, behavioral, adaptive, and intellectual ability in 17 subjects with ages ranging from 3 to 55 with FDH attending the 2013 Annual Family Conference of the National Foundation for Ectodermal Dysplasias. Findings suggested overall average functioning in all areas. However, wide variability was noted in this sample, with 3 participants (18%) exhibiting overall cognitive ability in the borderline to impaired range. These findings are consistent with previous reports suggesting intellectual impairment in 15% of persons with FDH. Similarly, a subgroup of children was rated by parents as exhibiting difficulties with behavior (2 out of 11; 18%) and emotions (5 out of 11; 45%). Of particular concern was withdrawn behavior, reported by 65% of parents. These findings suggest that clinicians should routinely screen persons with FDH to rule out cognitive and emotional/behavioral difficulties and offer timely treatment. Future research should focus on identifying risk factors for psychoeducational problems in this population.

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