ABSTRACT
Simulated standardized patients (SSP) have emerged as close to a 'gold standard' for measuring the quality of clinical care. This method resolves problems of patient mix across healthcare providers and allows care to be benchmarked against preexisting standards. Nevertheless, SSPs are not real patients. How, then, should data from SSPs be considered relative to clinical observations with 'real' patients in a given health system? Here, we reject the proposition that SSPs are direct substitutes for real patients and that the validity of SSP studies therefore relies on their ability to imitate real patients. Instead, we argue that the success of the SSP methodology lies in its counterfactual manipulations of the possibilities available to real careseekers - especially those paths not taken up by them - through which real responses can be elicited from real providers. Using results from a unique pilot study where SSPs returned to providers for follow-ups when asked, we demonstrate that the SSP method works well to elicit responses from the provider through conditional manipulations of SSP behavior. At the same time, observational methods are better suited to understand what choices real people make, and how these can affect the direction of diagnosis and treatment. A combination of SSP and observational methods can thus help parse out how quality of care emerges for the "patient" as a shared history between care-seeking individuals and care providers.
Subject(s)
Anodontia , Eyelid Neoplasms , Eccrine Glands/abnormalities , Humans , Hypotrichosis , Keratoderma, Palmoplantar , Pilot ProjectsSubject(s)
Hemangioma , Hypotrichosis , Keratoderma, Palmoplantar , Anodontia , Eccrine Glands/abnormalities , Eyelid Neoplasms , Humans , TongueSubject(s)
Anodontia/diagnosis , Eccrine Glands/abnormalities , Eyelid Diseases/pathology , Eyelid Neoplasms/diagnosis , Eyelids/abnormalities , Fibroadenoma/pathology , Hypotrichosis/diagnosis , Keratoderma, Palmoplantar/pathology , Sweat Gland Neoplasms/pathology , Administration, Topical , Anodontia/genetics , Anodontia/pathology , Biopsy , Eccrine Glands/pathology , Exons/genetics , Eyelid Diseases/diagnosis , Eyelid Diseases/genetics , Eyelid Neoplasms/genetics , Eyelid Neoplasms/pathology , Eyelids/pathology , Female , Fibroadenoma/diagnosis , Fibroadenoma/genetics , Homozygote , Humans , Hypotrichosis/genetics , Hypotrichosis/pathology , Keratoderma, Palmoplantar/diagnosis , Keratoderma, Palmoplantar/genetics , Middle Aged , Mutation , Wnt Proteins/geneticsSubject(s)
Anodontia/diagnosis , Eccrine Glands/abnormalities , Eyelid Neoplasms/diagnosis , Hypotrichosis/diagnosis , Keratoderma, Palmoplantar/diagnosis , Anodontia/genetics , Codon, Nonsense , Delayed Diagnosis , Eyelid Neoplasms/genetics , Female , Humans , Hypotrichosis/genetics , Keratoderma, Palmoplantar/genetics , Middle Aged , Wnt Proteins/geneticsABSTRACT
Eccrine angiomatous hamartoma (EAH) is a rare benign vascular hamartoma characterized histologically by an increased size and number of mature eccrine glands associated with multiple foci of dilated capillaries in the dermis and subcutis. EAH typically presents in children as discrete, solitary nodules, or plaques most commonly located on the extremities. Some cases of EAH have an agminated distribution involving classic locations, or present as solitary lesions in less common locations such as the face, scalp, or trunk. We report the case of congenital EAH in a child with atypical morphological features and pattern of distribution further expanding on the range of presentations classically described.
Subject(s)
Eccrine Glands/abnormalities , Hamartoma/congenital , Sweat Gland Diseases/congenital , Biopsy , Child, Preschool , Diagnosis, Differential , Humans , MaleSubject(s)
Anodontia/pathology , Eccrine Glands/abnormalities , Eccrine Porocarcinoma/pathology , Eyelid Neoplasms/pathology , Hypotrichosis/pathology , Keratoderma, Palmoplantar/pathology , Sweat Gland Neoplasms/pathology , Aged , Anodontia/complications , Biopsy , Eccrine Glands/pathology , Eccrine Porocarcinoma/surgery , Eyelid Neoplasms/complications , Female , Humans , Hypotrichosis/complications , Keratoderma, Palmoplantar/complications , Keratoderma, Palmoplantar/etiology , Margins of Excision , Surgical Flaps/surgery , Sweat Gland Neoplasms/surgery , Treatment Outcome , Wound Healing/physiologySubject(s)
Anodontia/genetics , Eccrine Glands/abnormalities , Eyelid Neoplasms/genetics , Hypotrichosis/genetics , Keratoderma, Palmoplantar/genetics , Mutation , Wnt Proteins/genetics , Adult , Anodontia/diagnosis , Anodontia/physiopathology , Child , DNA Mutational Analysis , Eccrine Glands/physiopathology , Eyelid Neoplasms/diagnosis , Eyelid Neoplasms/physiopathology , Female , Genetic Predisposition to Disease , Heredity , Humans , Hypotrichosis/diagnosis , Hypotrichosis/physiopathology , Keratoderma, Palmoplantar/diagnosis , Keratoderma, Palmoplantar/physiopathology , Male , Middle Aged , Pedigree , PhenotypeSubject(s)
Anodontia/genetics , Eccrine Glands/abnormalities , Eyelid Neoplasms/genetics , Hypotrichosis/genetics , Keratoderma, Palmoplantar/genetics , Mutation, Missense/genetics , Wnt Proteins/genetics , Anodontia/diagnosis , Anodontia/surgery , Apocrine Glands/surgery , Diagnosis, Differential , Eccrine Glands/surgery , Eyelid Neoplasms/diagnosis , Eyelid Neoplasms/surgery , Female , Heterozygote , Hidrocystoma/diagnosis , Hidrocystoma/genetics , Hidrocystoma/surgery , Humans , Hypotrichosis/diagnosis , Hypotrichosis/surgery , Keratoderma, Palmoplantar/diagnosis , Keratoderma, Palmoplantar/surgery , Middle Aged , Phenotype , Sweat Gland Neoplasms/diagnosis , Sweat Gland Neoplasms/genetics , Sweat Gland Neoplasms/surgeryABSTRACT
Schöpf-Schulz-Passarge syndrome (SSPS) is a rare ectodermal dysplasia characterized by cysts of the eyelids, hypodontia, hypotrichosis, palmoplantar keratosis and onychodystrophy, and it is not common in Asia according to the published work. This autosomal recessive disorder was believed to result from mutations in the WNT10A gene. We report a 54-year-old Taiwanese man with SSPS resulted from a homozygous mutation (p.Arg104Cys) in WNT10A. This mutation has not been reported in odonto-onycho-dermal dysplasia but was demonstrated to link with dental abnormalities. This report implies the significance of WNT10A gene mutation in ectodermal dysplasia and highlights the clinical features of SSPS.
Subject(s)
Anodontia/genetics , Eccrine Glands/abnormalities , Eyelid Neoplasms/genetics , Hypotrichosis/genetics , Keratoderma, Palmoplantar/genetics , Wnt Proteins/genetics , Anodontia/diagnosis , Anodontia/pathology , Biopsy , Eccrine Glands/pathology , Eyelid Neoplasms/diagnosis , Eyelid Neoplasms/pathology , Homozygote , Humans , Hypotrichosis/diagnosis , Hypotrichosis/pathology , Keratoderma, Palmoplantar/diagnosis , Keratoderma, Palmoplantar/pathology , Male , Middle Aged , Mutation, Missense , Pedigree , Skin/pathology , TaiwanABSTRACT
Schöpf-Schulz-Passarge syndrome (SSPS) is thought to be a rare autosomal recessive condition similar to many other ectodermal dysplasias. Diagnosis is difficult, with many possible differential diagnoses; however, eyelid cysts are a commonly seen feature. This clinical report aims to highlight this and describe the dental features and management of this syndrome, which existing literature has not previously described.
Subject(s)
Anodontia/complications , Dental Care for Children/methods , Eccrine Glands/abnormalities , Eyelid Neoplasms/complications , Hypotrichosis/complications , Keratoderma, Palmoplantar/complications , Child , Female , HumansABSTRACT
A 43-year-old Chinese man presented with generalized hypohidrosis, which he had had since birth, without obvious abnormalities of other skin appendages except a sparse beard and axillary hairs. The sweat test revealed localized sweating on the face, axillae and palms. Histopathologic examination showed that the sweat glands were absent in the forearm and thigh, but some eccrine and apocrine sweat glands were present in the right axilla. S-100 was expressed in the nerve terminals surrounding the acini and ducts of the eccrine sweat glands, while PGP9.5 was positive in the acini of apocrine glands and the nerve terminals surrounding the eccrine glands in the axilla. To our knowledge, this is the first case of congenital idiopathic hypohidrosis in China.
Subject(s)
Apocrine Glands/abnormalities , Eccrine Glands/abnormalities , Hypohidrosis/congenital , Hypohidrosis/pathology , Adult , Apocrine Glands/pathology , Axilla , China , Eccrine Glands/pathology , Humans , Immunohistochemistry , MaleABSTRACT
AbstractA 43-year-old Chinese man presented with generalized hypohidrosis, which he had had since birth, without obvious abnormalities of other skin appendages except a sparse beard and axillary hairs. The sweat test revealed localized sweating on the face, axillae and palms. Histopathologic examination showed that the sweat glands were absent in the forearm and thigh, but some eccrine and apocrine sweat glands were present in the right axilla. S-100 was expressed in the nerve terminals surrounding the acini and ducts of the eccrine sweat glands, while PGP9.5 was positive in the acini of apocrine glands and the nerve terminals surrounding the eccrine glands in the axilla. To our knowledge, this is the first case of congenital idiopathic hypohidrosis in China.
Subject(s)
Adult , Humans , Male , Apocrine Glands/abnormalities , Eccrine Glands/abnormalities , Hypohidrosis/congenital , Hypohidrosis/pathology , Axilla , Apocrine Glands/pathology , China , Eccrine Glands/pathology , ImmunohistochemistryABSTRACT
BACKGROUND: Schöpf-Schulz-Passarge syndrome (SSPS) is an autosomal recessive form of ectodermal dysplasia resulting from mutations in WNT10A. OBJECTIVES: To document the spectrum of clinical features and search for pathogenic mutations in seven unrelated cases of SSPS. METHODS: Clinical examination of patients and Sanger sequencing of genomic DNA spanning the coding exons and flanking spice sites of WNT10A. RESULTS: Most subjects had bilateral eyelid cysts and some degree of palmoplantar keratoderma, although nail, hair, and teeth abnormalities were variably present. Bi-allelic pathogenic mutations in WNT10A were found in all seven subjects. New mutations comprised p.Glu390*, p.Ser270Arg, and p.Cys362Arg; the recurrent mutations were p.Cys107* and p.Ala131Thr. CONCLUSIONS: This study reveals the range of ectodermal pathology in cases of SSPS that result from WNT10A mutations. Eyelid cysts provide a useful clinical clue to diagnosing SSPS which may be less rare than is currently appreciated.
Subject(s)
Anodontia/genetics , Eccrine Glands/abnormalities , Eyelid Neoplasms/genetics , Hypotrichosis/genetics , Keratoderma, Palmoplantar/genetics , Mutation/genetics , Wnt Proteins/genetics , Adult , Anodontia/pathology , Eccrine Glands/pathology , Eyelid Neoplasms/pathology , Female , Heterozygote , Humans , Hypotrichosis/pathology , Keratoderma, Palmoplantar/pathology , Male , Middle AgedABSTRACT
This article describes the inter- and intra-familial phenotypic variability in four families with WNT10A mutations. Clinical characteristics of the patients range from mild to severe isolated tooth agenesis, over mild symptoms of ectodermal dysplasia, to more severe syndromic forms like odonto-onycho-dermal dysplasia (OODD) and Schöpf-Schulz-Passarge syndrome (SSPS). Recurrent WNT10A mutations were identified in all affected family members and the associated symptoms are presented with emphasis on the dentofacial phenotypes obtained with inter alia three-dimensional facial stereophotogrammetry. A comprehensive overview of the literature regarding WNT10A mutations, associated conditions and developmental defects is presented. We conclude that OODD and SSPS should be considered as variable expressions of the same WNT10A genotype. In all affected individuals, a dished-in facial appearance was observed which might be helpful in the clinical setting as a clue to the underlying genetic etiology.
Subject(s)
Dentofacial Deformities/genetics , Mutation , Pedigree , Wnt Proteins/genetics , Adult , Anodontia/diagnosis , Anodontia/genetics , Child , Child, Preschool , Dentofacial Deformities/diagnosis , Eccrine Glands/abnormalities , Ectodermal Dysplasia/diagnosis , Ectodermal Dysplasia/genetics , Eyelid Neoplasms/diagnosis , Eyelid Neoplasms/genetics , Female , Genetic Variation , Genotype , Humans , Hypotrichosis/diagnosis , Hypotrichosis/genetics , Keratoderma, Palmoplantar/diagnosis , Keratoderma, Palmoplantar/genetics , Male , PhenotypeABSTRACT
This case study reports the clinical, skin biopsy and molecular findings in a 56-year-old Filipino man with the autosomal recessive ectodermal dysplasia disorder, Schöpf-Schulz-Passarge syndrome, the precise nature of which was established only after reading of a similar case in this journal. In addition to the late diagnosis, successful clinical management of his acral hyperkeratosis and ulceration has been difficult, with oral retinoids exacerbating the skin fragility.
Subject(s)
Anodontia/diagnosis , Delayed Diagnosis , Eccrine Glands/abnormalities , Ectodermal Dysplasia/diagnosis , Eyelid Neoplasms/diagnosis , Hypotrichosis/diagnosis , Keratoderma, Palmoplantar/diagnosis , Age Factors , Anodontia/etiology , Anodontia/therapy , Ectodermal Dysplasia/etiology , Ectodermal Dysplasia/therapy , Eyelid Neoplasms/etiology , Eyelid Neoplasms/therapy , Humans , Hypotrichosis/etiology , Hypotrichosis/therapy , Keratoderma, Palmoplantar/etiology , Keratoderma, Palmoplantar/therapy , Male , Middle AgedABSTRACT
La miliaria es un trastorno común de las glándulas sudoríparas ecrinas que se caracteriza clínicamente por la aparición de vesículas resultantes de la obstrucción del conducto glandular. La forma congénita es extremadamente infrecuente y existen sólo 4 casos publicados en la literatura. Presentamos a continuación dos pacientes evaluados en nuestro servicio con diagnóstico de miliaria cristalina congénita
Congenital miliaria crystallina is a common disorder of the eccrine sweat glands clinically characterized by the presence of vesicles resulting from the glandular duct obstruction. The congenital form of miliaria is extremely rare, with only 4 cases reported in the literature. We herein report 2 cases of congenital miliaria crystallina evaluated at our department
Subject(s)
Humans , Male , Infant, Newborn , Sweat Gland Diseases/congenital , Eccrine Glands/abnormalities , Miliaria , Congenital AbnormalitiesABSTRACT
Mutations in the EDA gene are responsible for X-linked hypohidrotic ectodermal dysplasia, the most common form of ectodermal dysplasia. Males show a severe form of this disease, while females often manifest mild to moderate symptoms. We identified a missense mutation (c.463C>T) in the EDA gene in a Jordanian family, using direct DNA sequencing. This mutation leads to an amino acid change of arginine to cysteine in the extracellular domain of ectodysplasin-A, a protein encoded by the EDA gene. The phenotype of a severely affected 11-year-old boy with this mutation included heat intolerance, sparse hair (hypotrichosis), absence of 17 teeth (oligodontia), speech problems, and damaged eccrine glands, resulting in reduced sweating (anhidrosis). Both the mother (40 years old) and the sister (10 years old) were carriers with mild to moderate symptoms of this disease, while the father was healthy. This detailed description of the phenotype caused by this missense mutation could be useful for prenatal diagnosis.