First case of Rubinstein-Taybi syndrome with desquamation associated with a novel mutation in the bromodomain of the CREBBP gene.

Abstract:

:Rubinstein-Taybi syndrome (RSTS) is a rare congenital disorder, mainly characterized by postnatal growth retardation, intellectual disability, and facial and limb abnormalities. Although not considered as characteristic manifestations, numerous cutaneous anomalies have also been reported in patients with RSTS while there has been no report of desquamation so far in any patients with RSTS. We report an unusual case of RSTS in an 8-year-old boy who presented with the typical facial and limb abnormalities of RSTS accompanied with apparent hirsutism and desquamation, but without apparent intellectual disability. Whole exome sequencing identified a novel mutation in the bromodomain of CREBBP (c.3503A>G, p.N1168S), which was further confirmed by targeted Sanger sequencing in comparison with healthy controls. Our findings expand the spectra of genetic mutations and clinical presentations associated with RSTS, and underline the importance of maintaining high awareness of rare presentations and diagnostic difficulties in management of rare genetic diseases such as RSTS.

journal_name

Clin Exp Dermatol

authors

Wang L,Deng Y,Zhou XL,Ma JJ,Li W

doi

10.1111/ced.13871

subject

Has Abstract

pub_date

2019-07-01 00:00:00

pages

e205-e208

issue

5

eissn

0307-6938

issn

1365-2230

journal_volume

44

pub_type

杂志文章
  • Photodynamic therapy for basal cell carcinomas in organ-transplant recipients.

    abstract::The incidence of nonmelanoma skin cancer is significantly increased in recipients of solid-organ transplants. Photodynamic therapy (PDT) is a well-documented treatment option for superficial and selected nodular basal cell carcinomas (BCCs) in immunocompetent patients, but there are few reports describing PDT of BCCs ...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.2011.04248.x

    authors: Guleng GE,Helsing P

    更新日期:2012-06-01 00:00:00

  • Co-occurrence of Aicardi-Goutières syndrome type 6 and dyschromatosis symmetrica hereditaria due to compound heterozygous pathogenic variants in ADAR1: a case series from India.

    abstract::Aicardi-Goutières syndrome type 6 (AGS6) and dyschromatosis symmetrica hereditaria (DSH) are allelic disorders caused respectively by biallelic and heterozygous pathogenic variants in ADAR1. We report three unrelated children presenting with features of both AGS6 and DSH, two of whom had compound heterozygous pathogen...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/ced.14531

    authors: Sathishkumar D,Muthusamy K,Gupta A,Malhotra M,Thomas M,Koshy B,Jasper A,Danda S,George R

    更新日期:2020-12-07 00:00:00

  • Metallothionein I and II gene knock-out mice exhibit reduced tolerance to 24-h sodium lauryl sulphate patch testing.

    abstract:BACKGROUND:Metallothioneins (MTs) are a group of proteins widely distributed in tissues regulating metal metabolism, scavenging free radicals, and taking part in immunological reactions. Knockout mice for MT genes I and II (MT(-/-)) exhibit reduced tolerance to ultraviolet B injury in vivo. Upregulation of MT proteins ...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.2007.02399.x

    authors: Ma C,Li LF,Zhang BX

    更新日期:2007-07-01 00:00:00

  • Doxycycline-induced hypoglycaemia.

    abstract::Tetracyclines, including doxycycline, are widely used drugs that form an integral part of daily prescribing, and serious adverse reactions (SARs) are rarely reported. The frequency of hypoglycaemia complicating tetracycline treatment remains unknown, and is not a recognized complication. We describe an 80-year-old man...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/ced.12692

    authors: Tan CH,Shelley C,Harman KE

    更新日期:2016-01-01 00:00:00

  • Johnson square procedure for lentigo maligna and lentigo maligna melanoma.

    abstract:BACKGROUND:Lentigo maligna (LM) and lentigo maligna melanoma (LMM) can be difficult to manage surgically. Predetermined margins can be inadequate because of subclinical spread, or can affect function when margins are adjacent to the eye or mouth. AIM:To describe our 5-year experience in Nottingham of using the staged ...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/ced.12363

    authors: Patel AN,Perkins W,Leach IH,Varma S

    更新日期:2014-07-01 00:00:00

  • Partial atrophic tongue other than median rhomboid glossitis.

    abstract::A group of 23 patients with partial atrophic change of the tongue was examined for candidiasis. All of them reported pain in the tongue on eating hot or spicy food. The intensity of the tongue pain was evaluated before and after treatment using a visual analogue scale. Of the 23 patients, 10 (43.5%) had predisposing f...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.2007.02383.x

    authors: Terai H,Shimahara M

    更新日期:2007-07-01 00:00:00

  • Prostatic adenocarcinoma with cutaneous metastases overlying oestrogen-induced gynaecomastia.

    abstract::Carcinoma of the prostate gland is the second most frequent malignancy in males, accounting for 17% of cancer in men; between a third and one-half of these patients will have distant metastases at onset, but rarely cutaneous. We now report a case of prostatic adenocarcinoma with such metastases involving the right nip...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:

    authors: Marcoval J,Moreno A,Jucglà A,Servitje O,Peyrí J

    更新日期:1998-05-01 00:00:00

  • Tumoral calcinosis: an unusual cause of cutaneous calcification.

    abstract::Tumoral calcinosis is an uncommon ectopic calcification syndrome characterized clinically by the presence of irregular, painless, periarticular soft tissue calcifying masses, and pathologically by fibrous-walled cystic spaces containing structureless calcific debris and associated with a variable inflammatory reaction...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:

    authors: Harwood CA,Cook MG,Mortimer PS

    更新日期:1996-03-01 00:00:00

  • Immunohistochemistry of ultrastructural changes in scarring lupus erythematosus.

    abstract:BACKGROUND:The various clinical types of lupus erythematosus (LE) show an essentially similar histological picture, and the subsets of LE cannot easily be distinguished by histology alone. However, there is an important clinical difference: lesions of discoid LE (DLE) cause scarring, particularly on the scalp, whereas ...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.2010.03859.x

    authors: Al-Refu K,Goodfield M

    更新日期:2011-01-01 00:00:00

  • Dermoscopic features of naevus-associated melanoma.

    abstract::Little is currently known about the relationship between melanocytic naevi and melanoma in terms of neoplastic progression. At histological examination, remnants of a pre-existing melanocytic naevus adjoining a melanoma are seen in 20-30% of cases. This study investigated dermoscopic features of 108 naevus-associated ...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2230.2003.01332.x

    authors: Stante M,Carli P,Massi D,de Giorgi V

    更新日期:2003-09-01 00:00:00

  • Prenatal diagnosis of Herlitz junctional epidermolysis bullosa in nonidentical twins.

    abstract::Advances in molecular diagnostics have led to the feasibility of DNA-based prenatal testing in families at risk for recurrence of severe forms of both dystrophic and junctional epidermolysis bullosa. In this report, we describe prenatal testing in a woman who previously had a child affected with Herlitz junctional epi...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.2004.01704.x

    authors: Fassihi H,Ashton GH,Denyer J,Mellerio JE,Mason G,McGrath JA

    更新日期:2005-03-01 00:00:00

  • Pruritus measurement and treatment.

    abstract::Pruritus measurement is problematic, because of its subjective nature and poor localization. Ratio scales enhance the usefulness of the visual analogue scale (VAS) by reducing variation; other scales such as the generalized labelled magnitude scale may also be useful. Pruritus neuroanatomy includes peripheral receptor...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章,评审

    doi:10.1111/j.1365-2230.2009.03218.x

    authors: Langner MD,Maibach HI

    更新日期:2009-04-01 00:00:00

  • Partial unilateral lentiginosis: report of seven cases and review of the literature.

    abstract::Partial unilateral lentiginosis is a rare disorder of cutaneous pigmentation characterized by the presence of multiple lesions of simple lentigo involving, wholly or partially, one half of the body. We report seven cases of this condition. ...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章,评审

    doi:10.1111/j.1365-2230.1995.tb01333.x

    authors: Piqué E,Aguilar A,Fariña MC,Gallego MA,Escalonilla P,Requena L

    更新日期:1995-07-01 00:00:00

  • Mycosis fungoides with spontaneously regressing CD30-positive tumorous lesions.

    abstract::Mycosis fungoides (MF) is the most common cutaneous T-cell lymphoma. We report a case in which identical T-cell clones were identified in both patch and tumour stage lesions and in which the tumorous deposits, containing CD30-positive cells, regressed spontaneously. We discuss the differential diagnosis of the tumorou...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:

    authors: Woodrow SL,Basarab T,Russell Jones R

    更新日期:1996-09-01 00:00:00

  • Erosive pustular dermatosis of the leg mimicking lower limb cellulitis.

    abstract::Erosive pustular dermatosis (EPD) of the leg is an unusual form of amicrobial pustulosis, which typically affects elderly patients with chronic venous insufficiency. We report a patient who presented with painful erythema, crusted erosions and pustules on her right lower leg. Histology showed a dermal infiltration mad...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/ced.12512

    authors: Zhou Z,Zhang ZK,Liu TH

    更新日期:2015-12-01 00:00:00

  • Actinic comedonal plaque--a rare ectopic form of the Favre-Racouchot syndrome.

    abstract::A 59-year-old woman with a single cuff-like plaque, consisting of multiple skin-coloured to bluish cysts and comedones on her right forearm is reported. The solitary lesion resembled, morphologically and histologically, the Favre-Racouchot syndrome. The above condition is another case of the previously described actin...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.1993.tb02181.x

    authors: John SM,Hamm H

    更新日期:1993-05-01 00:00:00

  • Giant combined dermatofibroma with satellitosis.

    abstract::An unusual giant combined dermatofibroma is reported in a 34-year-old man who presented with skin-coloured swellings on the medial aspect of the left scapula. The plaque was well defined, reddish-brown and 25-30 cm in diameter. It was also tender and indurated. Several similar smaller lesions (satellites) were present...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.2004.01457.x

    authors: Sehgal VN,Sardana K,Khandpur S,Sharma S,Majumdar S,Aggarwal AK

    更新日期:2004-03-01 00:00:00

  • Malignant melanoma in Chile: an unusual distribution of primary sites in men from low socioeconomic strata.

    abstract:BACKGROUND:Mortality from malignant melanoma (MM) has increased in Chile in the past decade. The location of MM lesions on the body has been correlated with prognosis and survival. AIM:To review body site and gender relationships with histopathologically confirmed primary MM in Chile. METHODS:Records of 575 cases pre...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.2005.02038.x

    authors: Zemelman V,Roa J,Tagle SR,Valenzuela CY

    更新日期:2006-05-01 00:00:00

  • Dyschromatosis universalis hereditaria.

    abstract::Dyschromatosis universalis hereditaria is a clinically heterogenous disorder. We report two unrelated Indian patients with dyschromatosis universalis hereditaria, who had generalized and progressive reticulate hyper- and hypo-pigmentation of the skin. The oral mucosa and tongue also showed mottled pigmentation. Intrig...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2230.2002.01129.x

    authors: Sethuraman G,Srinivas CR,D'Souza M,Thappa DM,Smiles L

    更新日期:2002-09-01 00:00:00

  • Disaccharide analysis of the skin glycosaminoglycans in patients with Werner's syndrome.

    abstract::The disaccharide content of the chondroitinase-digestible glycosaminoglycans (GAGs) extracted from 6-mm skin punch biopsies from the atrophic and sclerotic skin of two patients with Werner's syndrome (WS) were determined using high-performance liquid chromatography after 1-phenyl-3-methyl-5-pyrazolone labelling. The t...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.1994.tb01253.x

    authors: Higuchi T,Ishikawa O,Hayashi H,Ohnishi K,Miyachi Y

    更新日期:1994-11-01 00:00:00

  • Simvastatin-induced lichenoid drug eruption.

    abstract::Cutaneous drug eruptions have a variety of clinical features. Lichenoid drug eruptions are rare and may be difficult to diagnose. A case of a simvastatin-induced lichenoid eruption with skin and mucosal involvement is reported. ...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.1994.tb01128.x

    authors: Roger D,Rolle F,Labrousse F,Brosset A,Bonnetblanc JM

    更新日期:1994-01-01 00:00:00

  • Macrodactyly in tuberous sclerosis complex.

    abstract::A 19-year-old-male, previously diagnosed case of tuberous sclerosis complex, presented to us with gradually progressive thickening of the fourth finger of his right hand that was first noticed at seven years of age. There was no pain or difficulty in moving the finger. On examination, the distal aspect of the fourth d...

    journal_title:Clinical and experimental dermatology

    pub_type: 信件

    doi:10.1111/ced.14581

    authors: Sindhuja T,Agarwal S,Gupta V

    更新日期:2021-01-28 00:00:00

  • Giant condyloma of Buschke-Loewenstein in association with erythroderma.

    abstract::The Buschke-Loewenstein tumour is regarded as a type of verrucous carcinoma occurring on anogenital mucosal surfaces. The tumour is locally invasive but displays a benign cytology and rarely metastasizes. It is associated with human papillomavirus types 6 and 11. We describe a case of Buschke-Loewenstein tumour occurr...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2230.2003.01167.x

    authors: Antony FC,Ardern-Jones M,Evans AV,Rosenbaum T,Russell-Jones R

    更新日期:2003-01-01 00:00:00

  • Pure hair-nail ectodermal dysplasia maps to chromosome 12p11.1-q21.1 in a consanguineous Pakistani family.

    abstract::Ectodermal dysplasias (ED) are developmental disorders affecting tissues of ectodermal origin including hair, nail, teeth and sweat glands. To date, four different types of ectodermal dysplasias involving only hair and nails have been described. In an effort to understand the molecular basis of ED of hair and nails, a...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.2007.02413.x

    authors: Naeem M,John P,Ali G,Ahmad W

    更新日期:2007-09-01 00:00:00

  • Laser therapy of telangiectatic leg veins: clinical evaluation of the 810 nm diode laser.

    abstract::Telangiectatic leg veins (TLV) are experienced by millions of women and men. As they cause significant cosmetic embarrassment, many women seek effective treatment. Options include sclerotherapy and treatment with different lasers. We investigated the safety and efficacy of an 810-nm diode laser in the treatment of TLV...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2230.2000.00679.x

    authors: Varma S,Lanigan SW

    更新日期:2000-07-01 00:00:00

  • Acquired dermal melanocytosis of the face and extremities.

    abstract::Acquired dermal melanocytosis (ADM) is a relatively rare, but well-described disease among adolescent to middle-aged East Asian women, particularly those of Japanese and Chinese descent. Clinically, ADM manifests as multiple punctate and greyish-brown pigmented areas 1-3 mm in diameter occurring on both sides of the f...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/ced.12867

    authors: Ouchi T,Ishii K,Nishikawa T,Ishiko A

    更新日期:2016-08-01 00:00:00

  • Secondary localized cutaneous amyloid in Bowen's disease.

    abstract::A case of Bowen's disease is described in which striking quantities of amyloid were detected in the papillary dermis visualized easily by routine haematoxylin and eosin staining. The material showed positive labelling with an antikeratin monoclonal antibody consistent with the proposed origin of the amyloid as degener...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.1993.tb02191.x

    authors: Speight EL,Milne DS,Lawrence CM

    更新日期:1993-05-01 00:00:00

  • Teledermatology in practice.

    abstract::Teledermatology has been the focus of much interest in recent years. Potential uses include a simple supporting role for primary care, more accurate triage of dermatology patients or an 'advice only' service reducing the need for dermatology patients to attend outpatient clinics. With the current under-provision of de...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2230.2003.01313.x

    authors: Mallett RB

    更新日期:2003-07-01 00:00:00

  • Acne fulminans 'sine fulminans'.

    abstract::Acne fulminans is characterized by the sudden onset of a severe, ulcerative acne associated with systemic features. Response to traditional acne therapies is poor. We have recognized a subset of patients with acne of a severity comparable to that of acne fulminans but with the absence of systemic involvement; we sugge...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2230.2000.00647.x

    authors: Thomson KF,Cunliffe WJ

    更新日期:2000-06-01 00:00:00

  • Angiolymphoid hyperplasia with eosinophilia on the tongue.

    abstract::Angiolymphoid hyperplasia with eosinophilia (AHE) is a benign reactive vascular lesion characterized by a proliferation of small to medium sized vascular structures lined by epithelioid endothelial cells. We report a 75-year-old woman with a 1-month history of a painful ulcer on the tongue. Histopathological findings ...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.2009.03453.x

    authors: Garrido-Ríos AA,Sanz-Muñoz C,Torrero-Antón MV,Martínez-García G,Miranda-Romero A

    更新日期:2009-12-01 00:00:00