Harlequin ichthyosis: A case report and literature review

Shrestha, Abhigan Babu; Biswas, Prince; Shrestha, Sajina; Riyaz, Romana; Nawaz, Muhammad Hassnain; Shrestha, Shumneva; Hossainy, Labiba

doi:10.1002/ccr3.6709

Cited by 9 publications

(12 citation statements)

References 16 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The restriction of respiratory movements is attributed to the presence of inflexible thick membranes covering the chest and the entire body, resulting in an elevated risk of mortality associated with respiratory failure. Ectropion, eclabium, auricular flattening, digital deformities with autoamputation, hypo-or hyperthermia, electrolyte imbalances, as well as pulmonary and cutaneous infections have been identified as potential factors contributing to mortality within the initial days following birth (19,20). Nevertheless, as a result of advancements in newborn intensive care facilities and the use of targeted medicines, the outlook for infants with HI conditions has experienced a notable enhancement.…”

Section: Discussionmentioning

confidence: 99%

Harlequin Ichthyosis: Case series

Ezveci,

Dogru,

Akkus

et al. 2024

Gynecol Obstet Reprod Med

View full text Add to dashboard Cite

Objective: Harlequin ichthyosis (HI) is an autosomal-recessive inherited disorder. The incidence is extremely rare and is reported to range from 1/300 000 to 1/1 000 000. Some risk factors include preterm births and consanguinity. Prenatal DNA testing for the ABCA12 mutation aids in diagnosis. Although ultrasonography helps the diagnosis, the diagnostic value of a single ultrasound is low. It is fatal for the affected newborn after the first few days after birth, but few long-term survivals have been recorded. The hallmark of with disease is severely keratinized skin. This study aims to evaluate the prenatal and postnatal outcomes of cases with HI. Study Design: The study includes instances of HI that were diagnosed at the clinic throughout 2018–2023. The week of diagnosis, ultrasonographic findings, week of birth, and findings at the time of delivery for all patients were acquired via electronic reports and archival data. Data regarding the condition of viable fetuses was acquired using telephonic means. Results: The study included a total of five patients. There were prenatal ultrasonography findings in three cases. There were no prenatal ultrasound findings in the remaining two patients. Cordocentesis was applied to a single case using prenatal ultrasound diagnosis, and a normal genetic result was obtained. The remaining two cases refused to opt for the option of prenatal invasive testing. The termination option was not accepted in three cases with an intrauterine diagnosis. Prenatal ultrasonography revealed features showing skin thickening, ectropion, eclabion, oligohydramnios, and fetal growth restriction (FGR). Histological examination results of fetal skin biopsies in three cases showed consistent findings of epidermolytic HI, thus confirming the diagnosis of HI. The histological diagnosis of the remaining two patients was inconclusive. All cases are alive. Conclusion: It is advisable to conduct a methodical evaluation based on the clinical manifestations of the condition during the third trimester of gestation to diagnose HI, particularly in instances where there is no familial predisposition.

show abstract

Section: Discussionmentioning

confidence: 99%

Harlequin Ichthyosis: Case series

Ezveci,

Dogru,

Akkus

et al. 2024

Gynecol Obstet Reprod Med

View full text Add to dashboard Cite

show abstract

“…The case was documented photographically at first visit and during follow-up (►Figs. [1][2][3][4][5]. The Modified Naranjo Criteria for Homeopathy (MONARCH) was used for the assessment of the causal relationship between homoeopathic medicine applied to the changes occurred in the patient, have been applied to this case.…”

Section: Outcome Assessmentmentioning

confidence: 99%

“…Myiasis is a parasitic condition in which the larvae of several fly species infect the living or dead tissues of a host. 1 Myiasis is predisposed to by diabetes, immobility, drug and alcohol abuse, poor hygiene, and a weakened immune system. 2 The larvae enter the body through bodily cavities like the mouth, ears, eyes and urogenital tract, as well as skin wounds.…”

Section: Introductionmentioning

confidence: 99%

“…In humid and warm regions, this type of human infection is more prevalent. 1 The most typical kind of myiasis is cutaneous. In tropical and subtropical regions of the world, it is widely found, with a higher prevalence in rural communities where sanitation is generally subpar.…”

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Management of Wound Myiasis through Homoeopathy: A Case Report

Nahar,

Choubey

2024

Homœopathic Links

View full text Add to dashboard Cite

The parasitic invasion of live mammals by fly larvae (maggots), known as myiasis, is a rare pathology. The fly invades the host tissue and feeds on it to grow. No documentation has been found on homoeopathic intervention for wound myiasis management. A 52-year-old female presented with complaints of ulceration on the left leg with maggot formation, clinically diagnosed as a case of wound myiasis. Calendula officinalis 30CH was prescribed based on the acute symptomatology and keynote symptoms. The case was completely managed within 21 days. The wound was cleaned and dressed regularly with Calendula officinalis Q. This instance illustrates the effectiveness of homoeopathic medication in rapidly and efficiently treating wound myiasis.

show abstract

External Genitalia Myiasis in a 40-Year-Old Woman

Mansouri,

Allahqoli,

Salehiniya

et al. 2023

Case Reports in Obstetrics and Gynecology

View full text Add to dashboard Cite

Human myiasis is an infestation produced by fly larvae invading the tissues. We present a case of a 40-year-old virgin woman with vulvar myiasis. She reported at the gynecology clinic with a bloody discharge, severe pain, and swelling of the genital area for six days. Her menstrual history revealed the use of folded clothes. She had no specific gynecological disease. At the examination of the external genitalia, a tender mass measuring 6 cm × 4 cm and an ulcer measuring 1 cm × 1 cm on the surface of the labia majora were found. The patient was hospitalized. Serology, blood, and urine tests were requested; all laboratory tests were normal. The patient was transferred to the operating room (OR) with the diagnosis of necrotizing fasciitis. In the OR, we performed a longitudinal incision on the mass and removed nearly 30 visible maggots. After washing with normal saline, the patient was transferred to the ward without wound suturing. Debridement of the necrotic vulvar mass along with daily washing was performed for 7 days. The wound was sutured on the seventh day at the OR. Antibiotic therapy was continued for 4 days, and the patient was discharged with normal laboratory tests on the eleventh day after admission. We believe that poor sanitary hygiene was the cause of vulvar myiasis in our patient. We conclude that appropriate measures must be taken to reduce the risk of human myiasis, especially in tropical rural regions.

show abstract

Harlequin ichthyosis: A case report and literature review

Cited by 9 publications

References 16 publications

Harlequin Ichthyosis: Case series

Harlequin Ichthyosis: Case series

Management of Wound Myiasis through Homoeopathy: A Case Report

External Genitalia Myiasis in a 40-Year-Old Woman

Contact Info

Product

Resources

About