Prominent Follicular Keratosis in Multiple Intestinal Atresia with Combined Immune Deficiency Caused by a TTC7A Homozygous Mutation
Multiple intestinal atresia with combined immune deficiency (MIA-CID) is an autosomal recessive syndrome due to mutations in the TTC7A gene implicated in the polarization of intestinal and thymic epithelial cells. MIA-CID is lethal in the first year of life in the majority of patients. Dermatologica...
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MDPI AG
2022-05-01
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| author | Andrea Diociaiuti Roberta Caruso Silvia Ricci Rita De Vito Luisa Strocchio Daniele Castiglia Giovanna Zambruno May El Hachem |
| author_facet | Andrea Diociaiuti Roberta Caruso Silvia Ricci Rita De Vito Luisa Strocchio Daniele Castiglia Giovanna Zambruno May El Hachem |
| author_sort | Andrea Diociaiuti |
| collection | DOAJ |
| description | Multiple intestinal atresia with combined immune deficiency (MIA-CID) is an autosomal recessive syndrome due to mutations in the TTC7A gene implicated in the polarization of intestinal and thymic epithelial cells. MIA-CID is lethal in the first year of life in the majority of patients. Dermatological manifestations have been reported in a few cases. We describe a child affected with MIA-CID due to a previously unreported TTC7A homozygous missense mutation. Surgery for bowel occlusion was performed in the first days of life. The patient was totally dependent on parenteral nutrition since birth and presented severe diarrhea and recurrent infections. He underwent hematopoietic stem cell transplantation at 17 months with complete donor engraftment and partial immunity improvement. In the second year of life, he progressively developed diffuse papular follicular keratoses on ichthyosiform skin, nail clubbing, and subungual hyperkeratosis. Histopathology showed hyperkeratosis with follicular plugging and scattered apoptotic keratinocytes, visualized at an ultrastructural examination. Our findings expand the spectrum of dermatological manifestations which can develop in MIA-CID patients. Examination of further patients will allow defining whether keratinocyte apoptosis is also a disease feature. |
| first_indexed | 2024-03-10T03:50:16Z |
| format | Article |
| id | doaj.art-643ae9a0c1a142a0b6bea7852acd00d2 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-10T03:50:16Z |
| publishDate | 2022-05-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-643ae9a0c1a142a0b6bea7852acd00d22023-11-23T11:09:59ZengMDPI AGGenes2073-44252022-05-0113582110.3390/genes13050821Prominent Follicular Keratosis in Multiple Intestinal Atresia with Combined Immune Deficiency Caused by a TTC7A Homozygous MutationAndrea Diociaiuti0Roberta Caruso1Silvia Ricci2Rita De Vito3Luisa Strocchio4Daniele Castiglia5Giovanna Zambruno6May El Hachem7Dermatology Unit, Bambino Gesù Children’s Hospital, IRCCS, Piazza Sant’Onofrio 4, 00165 Rome, ItalyDepartment of Pediatric Oncohematology, Cell and Gene Therapy, Bambino Gesù Children’s Hospital, IRCCS, Piazza Sant’Onofrio 4, 00165 Rome, ItalyImmunology Unit, Department of Health Sciences, Meyer Children’s University Hospital, Viale Pieraccini 24, 50139 Florence, ItalyPathology Unit, Bambino Gesù Children’s Hospital, IRCCS, Piazza Sant’Onofrio 4, 00165 Rome, ItalyDepartment of Pediatric Oncohematology, Cell and Gene Therapy, Bambino Gesù Children’s Hospital, IRCCS, Piazza Sant’Onofrio 4, 00165 Rome, ItalyLaboratory of Molecular and Cell Biology, IDI, IRCCS, Via Monti di Creta 104, 00167 Rome, ItalyGenodermatosis Unit, Genetics and Rare Diseases Research Division, Bambino Gesù Children’s Hospital, IRCCS, Piazza Sant’Onofrio 4, 00165 Rome, ItalyDermatology Unit, Bambino Gesù Children’s Hospital, IRCCS, Piazza Sant’Onofrio 4, 00165 Rome, ItalyMultiple intestinal atresia with combined immune deficiency (MIA-CID) is an autosomal recessive syndrome due to mutations in the TTC7A gene implicated in the polarization of intestinal and thymic epithelial cells. MIA-CID is lethal in the first year of life in the majority of patients. Dermatological manifestations have been reported in a few cases. We describe a child affected with MIA-CID due to a previously unreported TTC7A homozygous missense mutation. Surgery for bowel occlusion was performed in the first days of life. The patient was totally dependent on parenteral nutrition since birth and presented severe diarrhea and recurrent infections. He underwent hematopoietic stem cell transplantation at 17 months with complete donor engraftment and partial immunity improvement. In the second year of life, he progressively developed diffuse papular follicular keratoses on ichthyosiform skin, nail clubbing, and subungual hyperkeratosis. Histopathology showed hyperkeratosis with follicular plugging and scattered apoptotic keratinocytes, visualized at an ultrastructural examination. Our findings expand the spectrum of dermatological manifestations which can develop in MIA-CID patients. Examination of further patients will allow defining whether keratinocyte apoptosis is also a disease feature.https://www.mdpi.com/2073-4425/13/5/821dermoscopyichthyosiskeratinocyte apoptosisTTC7A mutation |
| spellingShingle | Andrea Diociaiuti Roberta Caruso Silvia Ricci Rita De Vito Luisa Strocchio Daniele Castiglia Giovanna Zambruno May El Hachem Prominent Follicular Keratosis in Multiple Intestinal Atresia with Combined Immune Deficiency Caused by a TTC7A Homozygous Mutation Genes dermoscopy ichthyosis keratinocyte apoptosis TTC7A mutation |
| title | Prominent Follicular Keratosis in Multiple Intestinal Atresia with Combined Immune Deficiency Caused by a TTC7A Homozygous Mutation |
| title_full | Prominent Follicular Keratosis in Multiple Intestinal Atresia with Combined Immune Deficiency Caused by a TTC7A Homozygous Mutation |
| title_fullStr | Prominent Follicular Keratosis in Multiple Intestinal Atresia with Combined Immune Deficiency Caused by a TTC7A Homozygous Mutation |
| title_full_unstemmed | Prominent Follicular Keratosis in Multiple Intestinal Atresia with Combined Immune Deficiency Caused by a TTC7A Homozygous Mutation |
| title_short | Prominent Follicular Keratosis in Multiple Intestinal Atresia with Combined Immune Deficiency Caused by a TTC7A Homozygous Mutation |
| title_sort | prominent follicular keratosis in multiple intestinal atresia with combined immune deficiency caused by a ttc7a homozygous mutation |
| topic | dermoscopy ichthyosis keratinocyte apoptosis TTC7A mutation |
| url | https://www.mdpi.com/2073-4425/13/5/821 |
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