30 citations
,
June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
May 2024 in “International journal of surgery case reports” A man had a large, rare cyst in his mouth removed after 10 years, which fixed his swallowing and breathing problems.
17 citations
,
January 2011 in “Indian journal of dermatology, venereology, and leprology” A rare genetic skin condition usually affecting males was found in a 9-year-old girl.
November 2022 in “Journal of the Endocrine Society” A 21-year-old male with a rare genetic disorder experienced sudden hair loss and high DHEAS levels, likely due to a condition similar to PCOS, usually seen in women.
February 2010 in “Journal of the American Academy of Dermatology” Umbilical cord blood transplantation improved the boy's symptoms despite complications.
A 5-year-old boy grew too much hair after using minoxidil, but it went away after stopping the treatment.
21 citations
,
November 2009 in “Dermatologic Clinics” The document suggests that certain protein deficiencies and scalp blistering in Epidermolysis Bullosa may cause hair loss.
January 2022 in “Clinical dermatology review” A girl with a rare skin condition called Keratosis Follicularis Spinulosa Decalvans showed no significant improvement with treatment.
14 citations
,
January 2014 in “Annals of Dermatology” Some cases of folliculotropic mycosis fungoides may progress slowly and not need aggressive treatment.
19 citations
,
March 1988 in “International Journal of Dermatology” Hair shaft dysplasias are abnormal hair conditions that can be inherited or acquired and may signal other health issues, with limited treatment options available.
April 2024 in “African Journal of Biological Sciences” The patient with lupus and Degos' disease showed significant improvement with treatment.
March 2025 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” Facial hyperpigmentation improved with oral isotretinoin and ivermectin cream after Demodex mites were identified as the cause.
12 citations
,
January 2001 in “Der Hautarzt” Trichorhinophalangeal syndrome causes hair, facial, and bone issues, with no specific treatment beyond gentle care.
6 citations
,
January 2015 in “Indian Dermatology Online Journal” PEODDN is a rare skin disorder with limited treatment options, best treated with laser therapy.
65 citations
,
March 2018 in “Journal of Dermatological Science” Skin problems can be caused or worsened by physical forces and pressure on the skin.
September 2017 in “Journal of Investigative Dermatology Symposium Proceedings” A 73-year-old woman with Hypopigmented Mycosis Fungoides, a rare skin lymphoma, experienced disease progression despite treatment, emphasizing the need for ongoing monitoring.
118 citations
,
August 2010 in “Developmental Cell” MIM is crucial for hair follicle formation and regeneration by controlling cilia formation and hedgehog signaling through its interaction with Cortactin and Src.
1 citations
,
September 2019 in “Journal of Investigative Dermatology” The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
August 2015 in “Dermatología Argentina” Frontal fibrosing alopecia causes hairline recession and eyebrow loss in postmenopausal women.
January 2026 in “Frontiers in Medicine” A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
243 citations
,
October 2003 in “Developmental biology” Ectodin integrates BMP, SHH, and FGF signals in developing ectodermal organs.
39 citations
,
January 1998 in “Dermatology” Milia, SM, and EVHC may be related conditions, not separate ones.
5 citations
,
January 2011 in “Journal of the Korean Association of Oral and Maxillofacial Surgeons” A woman developed a cyst in her parotid gland after a botox injection, which was successfully removed with surgery.
March 2003 in “中華皮膚科醫學雜誌” Trichothiodystrophy causes unusual hair and developmental issues.
28 citations
,
July 2008 in “Developmental Biology” Smad4 is important for healthy hair follicles because it helps produce a protein needed for hair to stick together and grow.
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
1 citations
,
March 2024 in “Ophthalmic Plastic and Reconstructive Surgery” A pilomatrixoma in the eyebrow can cause hair loss and skin lightening.
1 citations
,
October 2019 in “European Journal of Dermatology” Salicylic acid ointment effectively treated a toddler's skin condition.
5 citations
,
August 2021 in “Frontiers in Cell and Developmental Biology” DHEA boosts bone cell growth and differentiation in elderly stem cells.
12 citations
,
November 1987 in “Pediatric dermatology” Four children had unmanageable pale blond hair due to uncombable-hair syndrome.