Youngest Encounter with Gorlin–Goltz Syndrome: Navigating Early Diagnosis and Management
Gorlin–Goltz syndrome is a rare autosomal dominant disorder caused by an inactivating mutation of the patched 1 gene. Patients could present as early as infancy with varied presentation and multiple basal cell carcinoma. This case report highlights the youngest reported case to date, a 5-month-old p...
Saved in:
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2024-12-01
|
| Series: | Indian Journal of Paediatric Dermatology |
| Subjects: | |
| Online Access: | https://journals.lww.com/10.4103/ijpd.ijpd_41_24 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1841550062594818048 |
|---|---|
| author | Adarsh Vijayakumar Rashmi Mary Philip Sebastian Criton |
| author_facet | Adarsh Vijayakumar Rashmi Mary Philip Sebastian Criton |
| author_sort | Adarsh Vijayakumar |
| collection | DOAJ |
| description | Gorlin–Goltz syndrome is a rare autosomal dominant disorder caused by an inactivating mutation of the patched 1 gene. Patients could present as early as infancy with varied presentation and multiple basal cell carcinoma. This case report highlights the youngest reported case to date, a 5-month-old patient, who presented with multiple asymptomatic black papules and dysmorphic features. Dermatoscopy and subsequent investigations including targeted gene sequencing confirmed the diagnosis. This case underscores the importance of early recognition and multidisciplinary approach to the management of Gorlin–Goltz syndrome. |
| format | Article |
| id | doaj-art-97ea8025ad964d5089eca2213a1f5a18 |
| institution | Kabale University |
| issn | 2319-7250 2319-7269 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Indian Journal of Paediatric Dermatology |
| spelling | doaj-art-97ea8025ad964d5089eca2213a1f5a182025-01-10T10:01:04ZengWolters Kluwer Medknow PublicationsIndian Journal of Paediatric Dermatology2319-72502319-72692024-12-0125431531810.4103/ijpd.ijpd_41_24Youngest Encounter with Gorlin–Goltz Syndrome: Navigating Early Diagnosis and ManagementAdarsh VijayakumarRashmi Mary PhilipSebastian CritonGorlin–Goltz syndrome is a rare autosomal dominant disorder caused by an inactivating mutation of the patched 1 gene. Patients could present as early as infancy with varied presentation and multiple basal cell carcinoma. This case report highlights the youngest reported case to date, a 5-month-old patient, who presented with multiple asymptomatic black papules and dysmorphic features. Dermatoscopy and subsequent investigations including targeted gene sequencing confirmed the diagnosis. This case underscores the importance of early recognition and multidisciplinary approach to the management of Gorlin–Goltz syndrome.https://journals.lww.com/10.4103/ijpd.ijpd_41_24childdermatoscopygorlin–goltz syndromehypertelorismmacrocephalynevoid basal cell carcinoma syndrome |
| spellingShingle | Adarsh Vijayakumar Rashmi Mary Philip Sebastian Criton Youngest Encounter with Gorlin–Goltz Syndrome: Navigating Early Diagnosis and Management Indian Journal of Paediatric Dermatology child dermatoscopy gorlin–goltz syndrome hypertelorism macrocephaly nevoid basal cell carcinoma syndrome |
| title | Youngest Encounter with Gorlin–Goltz Syndrome: Navigating Early Diagnosis and Management |
| title_full | Youngest Encounter with Gorlin–Goltz Syndrome: Navigating Early Diagnosis and Management |
| title_fullStr | Youngest Encounter with Gorlin–Goltz Syndrome: Navigating Early Diagnosis and Management |
| title_full_unstemmed | Youngest Encounter with Gorlin–Goltz Syndrome: Navigating Early Diagnosis and Management |
| title_short | Youngest Encounter with Gorlin–Goltz Syndrome: Navigating Early Diagnosis and Management |
| title_sort | youngest encounter with gorlin goltz syndrome navigating early diagnosis and management |
| topic | child dermatoscopy gorlin–goltz syndrome hypertelorism macrocephaly nevoid basal cell carcinoma syndrome |
| url | https://journals.lww.com/10.4103/ijpd.ijpd_41_24 |
| work_keys_str_mv | AT adarshvijayakumar youngestencounterwithgorlingoltzsyndromenavigatingearlydiagnosisandmanagement AT rashmimaryphilip youngestencounterwithgorlingoltzsyndromenavigatingearlydiagnosisandmanagement AT sebastiancriton youngestencounterwithgorlingoltzsyndromenavigatingearlydiagnosisandmanagement |