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Focal Dermal Hypoplasia (Goltz Syndrome): A Cross-sectional Study from Eastern India.

ABSTRACT: Focal dermal hypoplasia (Goltz syndrome), is an extremely rare genetic disorder characterized by distinct skin manifestations and a wide range of abnormalities involving the ocular, dental, skeletal, urinary, gastrointestinal, cardiovascular, and central nervous systems. The objective of the present series is to emphasize the different typical as well as unusual features of this rare syndrome.This cross-sectional observational study was performed over a period of 8 years in a tertiary care hospital of Eastern India. Consecutive patients with the clinical diagnosis of Goltz syndrome were studied.A total of 8 patients with Goltz syndrome were evaluated. Out of them, one patient was a boy and the rest were girl. The age ranged from 3 days to 9 years. There was no family history. A characteristic Blaschkoid hypo- and hyper-pigmented skin lesions, congenital nodular fat herniation, and skin atrophy were present in all patients. Congenital cutaneous aplasia was present in 50% of the patients. Facial asymmetry and ear deformity (megalopinna and low-set ears) were seen in 37.5% and 12.5% of patients, respectively. Cutaneous telangiectasia was noticed in 37.5% of patients. Freckle- and lentigines-like pigmentation within the hypopigmented macules was found in 25% of patients. Raspberry-like papillomas around mouth were documented in 6 (75%) patients. Dysplastic nail changes with ridging were seen in 7 (87.5%) patients. Genital abnormality in the form of bilateral undescended testes and microphthalmia with aniridia were found in one patient each. Limb defects were present in all patients. Left-sided renal agenesis was found in one patient. The patient also had multiple cortical cysts of the right kidney.Genetic testing could not be performed in the present series.Our case series showed a few unusual or extremely rare manifestations such as undescended testes, dermal sinus, kyphoscoliosis, aniridia, unilateral kidney agenesis, and renal cortical cysts among others.

SUBMITTER: Ghosh SK

PROVIDER: S-EPMC5618837 | biostudies-literature | 2017 Sep-Oct

REPOSITORIES: biostudies-literature

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Focal Dermal Hypoplasia (Goltz Syndrome): A Cross-sectional Study from Eastern India.

Ghosh Sudip Kumar SK Dutta Abhijit A Sarkar Sharmila S Nag Shanka Subhra SS Biswas Surajit Kumar SK Mandal Prabhakar P

Indian journal of dermatology 20170901 5

<h4>Introduction</h4>Focal dermal hypoplasia (Goltz syndrome), is an extremely rare genetic disorder characterized by distinct skin manifestations and a wide range of abnormalities involving the ocular, dental, skeletal, urinary, gastrointestinal, cardiovascular, and central nervous systems. The objective of the present series is to emphasize the different typical as well as unusual features of this rare syndrome.<h4>Methology</h4>This cross-sectional observational study was performed over a per ...[more]

PMID: 28979012

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Project description:Cutaneous manifestations are fairly common in rheumatoid arthritis (RA) and they can help in early diagnosis, prompt treatment, and hence reduced morbidity from the disease.The objective of the present study was to find out the different patterns of dermatoses in a group of patients with RA from Eastern India.Consecutive patients fulfilling the American Rheumatism Association 1987 revised criteria for the classification of RA and who had different dermatoses were included in this cross-sectional study done over a period of 8 years in a tertiary care hospital in Eastern India. Thorough clinical examination and appropriate laboratory investigations were performed as needed. Data were recorded in a predesigned schedule, and appropriate statistical analysis was done.We studied 111 evaluable patients with an age range of 19-71 years and a female to male ratio of 7:1. The mean disease duration of RA was 6.5 years. Cutaneous infections as a group was the most common mucocutaneous manifestation (34.2%) followed by xerosis including ichthyotic skin changes (27%), pigmented purpuric dermatoses (14.4%), leg ulcer (9.9%), periungual telangiectasia (9.9%), rheumatoid nodules (RNs) (8.1%), purpura and ecchymoses (7.2%), small vessel vasculitis in (7.2%), corn and callosities (6.3%), palmar erythema (4.5%), and neutrophilic dermatosis (4.5%). Raynaud's phenomenon was found in 3.6% patients and panniculitis in (3.6%) patients. Rheumatoid factor (RF) and anti-cyclic citrullinated peptides antibody were positive in 74.8% and 88.3% patients, respectively. No statistically significant difference of incidence of leg ulcer, small vessel vasculitis, RN, or Raynaud's phenomenon could be noted between RF positive and negative groups.Being an institution-based study, the study findings may not reflect the true situation in the community which remained a limitation of this study.While some of the features of this study were analogous to Western data, other features showed discordance which may be due to ethnic variations among the patients with RA.

Dataset Information

Focal Dermal Hypoplasia (Goltz Syndrome): A Cross-sectional Study from Eastern India.

Publications

Focal Dermal Hypoplasia (Goltz Syndrome): A Cross-sectional Study from Eastern India.

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