|Year : 2022 | Volume
| Issue : 2 | Page : 99-101
A 3-year-old girl with old face appearance: Case report
Hamad A Alfahaad
Department of Medicine, Dermatology Unit, College of Medicine, Najran University, Najran, Saudi Arabia
|Date of Submission||11-Jun-2022|
|Date of Acceptance||17-Sep-2022|
|Date of Web Publication||30-Dec-2022|
Dr. Hamad A Alfahaad
College of Medicine, Najran University, King Abdulaziz Road, Najran 1988
Source of Support: None, Conflict of Interest: None
Hutchinson–Gilford Progeria Syndrome (HGPS) is a genetic disorder. Patients who suffer from this disorder show premature aging and a “plucked-bird” appearance on the face. This case reports a 3-year-old female, who manifested the symptoms of HGPS. The patient has a large head and eyes, receded jaws, a narrow nose, protruded forehead, decreased eyebrows and eyelash hair, stunted growth, and severe wrinkles. A genetic test was conducted to confirm the existence of the disease. The case is reported due to its rarity.
Keywords: Hutchinson–Gilford Progeria Syndrome, premature aging, progeria, stunted growth
|How to cite this article:|
Alfahaad HA. A 3-year-old girl with old face appearance: Case report. J Dermatol Dermatol Surg 2022;26:99-101
| Introduction|| |
Hutchinson–Gilford Progeria Syndrome (HGPS; MIM 176670) is a disease that was first reported by Jonathan Hutchinson in 1886., The disease is reported to occur rarely and only in 1 in 4 million new births worldwide. Since 1886, the cases that have been reported in literature are a little over 130., This shows the rarity of the disease. The main cause of the disease is mutations in the LMNA gene. The LMNA gene is responsible for providing instructions for producing the Lamin A protein. This protein helps in shaping the nucleus within cells. It is used in the creation of the scaffold component of the nuclear envelope (the membrane that surrounds the nucleus. The mutations in the LMNA lead to the production of Lamin A protein that is abnormal. This abnormality leads to the creation of a nuclear envelope that is unstable and which destroys the nucleus. This destruction of the nucleus leads to the premature death of cells. It is not yet clear how these factors lead to the characteristic features of HGPS; however, the accelerated growth and premature death of cells lead to early deaths, with most patients dying in the second decade of their life.
| Case Report|| |
A 3-year-old female patient with a 60-year-old father and 40-year-old mother who are close relatives was reported to derma OPD with a large head and eyes, receded jaws, narrow nose, protruded forehead, decreased eyebrows and eyelash hairs, permanent teeth, and severe wrinkles [Figure 1]. The patient weighed 11.3 kg. On further analysis, the patient was found to have a small tongue, and dry eczematous loose skin [Figure 2] and palmoplantar keratoderma [Figure 3]. There was no family history of the same disease.
|Figure 1: Old face looking with scanty hairs of scalp, eyebrows and eye lashes and perminant teeth|
Click here to view
The patient received a skull X-ray, which showed occipital bone flattening. On further investigation and diagnosis, the patient showed that complete blood count, chemistry, renal and liver function, and ECHO were normal. Diagnosis based on signs and symptoms showed that the patient might have been suffering from HGPS (MIM 176670). However, further genetic analysis was needed to confirm the diagnosis. Genetic testing for the LMNA mutation was conducted, confirming this in the patient, and thus confirming the diagnosis.
| Discussion|| |
HGPS is a genetic condition whose symptoms include the dramatic, rapid appearance of aging at an early age, which begins early in childhood for the affected patient. When born, patients with this condition appear normal, but they begin exhibiting HGPS's symptoms at late infancy. The children exhibit slower growth, gaining weight at a slower rate compared to normal children. Children suffering from HGPS also exhibit a characteristic facial appearance that is similar across gender and race: a beaked nose, prominent eyes, a thin nose, thin lips, protruding ears, a large head, and a plucked bird appearance, i.e. characteristic of this syndrome.
The cause of HGPS is mostly genetic. It occurs when there is a de novo autosomal dominant mutation in the LMNA gene, which is located at 1q21.1–1q21.3., Due to gonadal mosaicism, the transmission is rarely autosomal recessive or maternal. In most cases, it is a transitional mutation, which replaces cytosine with thymine. This mutation in the LMNA gene leads to a change in the coding of the Lamin A protein, hence changing its structure., The differences in Lamin A formation between a normal and mutated abnormal gene are shown in [Table 1]. The change in the structure causes the protein to fail in producing the farnesyl group. The lack of normal farnesylation results in an abnormal nucleus membrane (envelope), which destroys the nucleus. The genomic instability caused by the mutation decreases cell proliferation and leads to premature cell senescence and death.
The syndrome was distinguished from Werner syndrome due to its early onset. Rapid aging in the case of Werner syndrome starts at puberty, with children growing normally before this age. Cockayne syndrome was ruled out in this case, due to the characteristic large head. Children with Cockayne syndrome have small head sizes (microcephaly), a slow growth rate, and failure to gain weight. The patient did not exhibit the small head size. Scleroderma was ruled out since the patient was young, and the condition went beyond the skin. Scleroderma mostly affects people aged between 30 and 50 years and is a skin condition. The Rothmund–Thomson Syndrome was ruled out due to the lack of characteristic rash associated with the Rothmund–Thomson syndrome. This was in addition to the lack of hyperpigmentation and juvenile cataracts. Hypohidrotic ectodermal dysplasia was ruled out since there was no inability to sweat normally, no malformed teeth, eczema, nor ozena. Acrogeria was ruled out due to the lack of photosensitivity and the presence of abnormal hair (eyelashes, hair, and eyebrows) and teeth.
The prominent clinical-based symptoms were used to make the initial diagnosis, which was then confirmed through genetic testing.
In conclusion, the case is reported due to the rarity of the disease.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given his consent for images and other clinical information to be reported in the journal. The guardian understands that names and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3]