Progeria Infantum (Hutchinson–Gilford Syndrome) Associated with Scleroderma‐Like Lesions and Acro‐Osteolysis: A Case Report and Brief Review of the Literature

  title={Progeria Infantum (Hutchinson–Gilford Syndrome) Associated with Scleroderma‐Like Lesions and Acro‐Osteolysis: A Case Report and Brief Review of the Literature},
  author={Thomas Jansen and Ricardo Romiti},
  journal={Pediatric Dermatology},
Abstract: Progeria infantum (Hutchinson–Gilford syndrome) is a very rare syndrome of premature aging characterized by growth retardation and specific, progressive, premature senescent changes of the skin and other tissues. We report a 1.5‐year‐old girl with loss of scalp hair, eyebrows, and lashes, prominent scalp veins, micrognathia, abnormal ears, loss of subcutaneous tissue, and scleroderma‐like areas over the trunk. Radiographic studies revealed coxa valga and acro‐osteolysis of the… 
A case of mandibuloacral dysplasia presenting with features of scleroderma
This case demonstrates that mandibuloacral dysplasia should be considered in the differential diagnosis of juvenile scleroderma in the presence of atypical features such as negative serological studies, absence of Raynaud's phenomenon, sparse hair and micrognathia.
Hutchinson–Gilford progeria syndrome with severe skin calcinosis
A 1‐month‐old girl with marked sclerodermatous skin changes developed various symptoms of HGPS during follow‐up, which included sclerotic skin, pigmentation, skin atrophy with translucent veins, wispy hair and alopecia, nail dystrophy and decreased sweating.
Tight skin and limited joint movements as early presentation of Hutchinson-Gilford progeria in a 7-week-old infant
Hutchinson-Gilford syndrome is an extremely rare disorder of which the full clinical spectrum becomes evident with time, and sclerodermatous changes in the infant can be the first manifestation.
Atypical presentation of scleroderma in infancy
This case of a female child who had developed progressive skin tightening of whole body, sclerodactyly, and severe contracture of all joints with restricted opening of mouth with disease onset at 6 weeks of life could possibly be among youngest cases reported in the literature.
Initial Cutaneous Manifestations of Hutchinson‐Gilford Progeria Syndrome
A chart review of the structured initial intake histories of 39 individuals with HGPS enrolled in clinical trials from 2007 to 2010 at Boston Children's Hospital revealed distinct cutaneous manifestations during the first 2 years of life that may be the first signs of disease.
Progeroid syndrome with scleroderma‐like skin changes associated with homozygous R435C LMNA mutation
A 2‐year‐old girl born to consanguineous parents affected by progeroid syndrome with scleroderma‐like skin changes is presented, revealing the homozygous LMNA mutation 1303C>T (R435C) was found in the patient's parents and 11 other family members.
An infant with atrophic and wrinkled abdominal skin.
A7-week-oldwhitemale infantborn at 37weeks’ gestationvia cesarean delivery owing to maternal hypertension presented to dermatology clinic for evaluation of white patches and plaques suggestive of sclerodermatous changes.
Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes
Children with HGPS usually appear normal in early infancy, but at about six months of age begin to experience profound growth delay, and the skin acquires an abnormally aged appear- ance with prominent veins.
Progeria and the early aging in children: a case report.
This case highlights the importance of diagnosing progeria patients because they may be referred to the Progeria Research Foundation, which offers genetic screening and inclusion in clinical and therapeutic follow-up protocols without any costs.
Systemic Scleroderma in Childhood: A Case Report
A six-year-old boy is reported to be diagnosed with scleroderma, one of the most severe rheumatologic conditions diagnosed in children.


The Hutchinson-Gilford progeria syndrome. Report of 4 cases and review of the literature.
  • F. DeBusk
  • Medicine
    The Journal of pediatrics
  • 1972
Progressive Early Dermatologic Changes in Hutchinson‐Gilford Progeria Syndrome
At 18 months of age, irregular pigmentary changes of the abdomen, early occipital aiopecia, superficial scalp veins, glyphic nasal tip, absent ear lobules, coarse hair that stands on end, crowded dentition with delayed tooth development, and dystrophic nails permitted the diagnosis of progeria.
Progeria: Autopsy Report of One Case, with a Review of Pathologic Findings Reported in the Literature *
  • T. Ishii
  • Medicine
    Journal of the American Geriatrics Society
  • 1976
The pathologic findings were scleroderma‐like skin atrophy, elastotic degeneration of the skin, arteriosclerosis, atrophy of the endocrine glands, and acute peritonitis after appendectomy.
Hutchinson-Gilford progeria syndrome in a 45-year-old man.
Progeria (Hutchinson-Gilford).
A new case with the typical features of progeria (Hutchinson-Gilford) occurred. Histology of scleroderma-like skin revealed hyalinization of the connective tissue at the lower levels of the dermis
Scar and keloidlike lesions in progeria. An electron-microscopic and immunohistochemical study.
It is suggested that progeria is associated with hyperplastic scars or keloidlike lesions with an unusual accumulation of type IV collagen, which may be formed through interaction between activated T cells and fibroblasts after minor traumas.
Hutchinson‐Gilford progeria syndrome: report of a Libyan family and evidence of autosomal recessive inheritance
A Libyan family with the Hutchinson‐Gilford progeria syndrome affecting three children of two sisters with the pattern of inheritance appeared autosomal recessive is described.
The musculoskeletal manifestations of progeria. A literature review.
Although a superficial similarity exists between the musculoskeletal disorders associated with natural aging and those of progeria, an in-depth analysis reveals profound differences in the
The premature aging syndromes.
Pathologic findings in progeria: myocardial fibrosis and lipofuscin pigment.
The pathologic findings in two patients with progeria, which had several features in common: the history of congestive heart failure preceding death, the pathological findings of interstitial and focal myocardial fibrosis and necrosis, and intracellular accumulation of lipofuscin pigment in many organs, lend support to the concept of progeria as a syndrome of premature aging.