Late diagnosis of ectodermal dysplasia syndrome

Robert H Granger; Gillian Marshman; Lu Liu; John A McGrath

doi:10.1111/j.1440-0960.2012.00895.x

Late diagnosis of ectodermal dysplasia syndrome

Robert H Granger, Gillian Marshman, Lu Liu, John A McGrath

Dermatology

Flinders Medical Centre

Research output: Contribution to journal › Article › peer-review

10 Citations (Scopus)

Abstract

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.

Original language	English
Article number	N/A
Pages (from-to)	46-48
Number of pages	3
Journal	The Australasian journal of dermatology
Volume	54
Issue number	1
DOIs	https://doi.org/10.1111/j.1440-0960.2012.00895.x
Publication status	Published - Feb 2013

Keywords

Age Factors
Anodontia
Delayed Diagnosis
Eccrine Glands
Ectodermal Dysplasia
Eyelid Neoplasms
Humans
Hypotrichosis
Keratoderma, Palmoplantar
Male
Middle Aged

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10.1111/j.1440-0960.2012.00895.x

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title = "Late diagnosis of ectodermal dysplasia syndrome",

abstract = "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, Sch{\"o}pf-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.",

keywords = "Age Factors, Anodontia, Delayed Diagnosis, Eccrine Glands, Ectodermal Dysplasia, Eyelid Neoplasms, Humans, Hypotrichosis, Keratoderma, Palmoplantar, Male, Middle Aged",

author = "Granger, {Robert H} and Gillian Marshman and Lu Liu and McGrath, {John A}",

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AU - Granger, Robert H

AU - Marshman, Gillian

AU - Liu, Lu

AU - McGrath, John A

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N2 - 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.

AB - 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.

KW - Age Factors

KW - Anodontia

KW - Delayed Diagnosis

KW - Eccrine Glands

KW - Ectodermal Dysplasia

KW - Eyelid Neoplasms

KW - Humans

KW - Hypotrichosis

KW - Keratoderma, Palmoplantar

KW - Male

KW - Middle Aged

U2 - 10.1111/j.1440-0960.2012.00895.x

DO - 10.1111/j.1440-0960.2012.00895.x

M3 - Article

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SN - 1440-0960

VL - 54

SP - 46

EP - 48

JO - The Australasian journal of dermatology

JF - The Australasian journal of dermatology

IS - 1

M1 - N/A

ER -

Late diagnosis of ectodermal dysplasia syndrome

Abstract

Keywords

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