#ptch;

[iamafanofcartoons]

undefined

PTCH "Steel" Trailer | RWBY Fan Animation By Combat Ready Studios

https://www.youtube.com/watch?v=rMShqUj58_A

[jcrmhscasereports]

Basal cell carcinoma resection in an Ecuadorian patient with Gorlin-Goltz syndrome by Andrea Villarreal-Juris in Journal of Clinical Case Reports Medical Images and Health Sciences 

ABSTRACT

Gorlin-Goltz syndrome is an inherited dominant autosomal disorder characterized by a predisposition to numerous cancers. The clinical-pathological findings of this syndrome are very diverse. The objective of this report is to present an Ecuadorian patient with Gorlin-Goltz syndrome who underwent surgical resection of basal cell carcinoma compatible lesions.

Conclusion: Gorlin-Goltz syndrome encompasses a variety of clinical signs and symptoms, including important oral manifestations and skin lesions that must be recognized to achieve an early specialty referral, thus reducing the risk of malignancy through a multidisciplinary treatment.

Keywords: Basal Cell Nevus Syndrome, Gorlin-Goltz syndrome, Carcinoma, Basal Cell

INTRODUCTION

Gorlin-Goltz (G-G) syndrome or nevoid basal cell carcinoma syndrome (NBCCS) is a dominant autosomal genetic disorder with high penetrance. Fifty percent of patients who suffer from it have a mutation in the long arm of chromosome 9q22.3 in the area of the PTCH gene (protein patched homolog) (1–3), a homologue of the Drosophila patched gene (PTC), which encodes a transmembrane receptor protein (4). This protein binds to a soluble factor of the hedgehog family (Hh), thus activating the Smo (smoothened) receptor, which unblocks the transcription of several growth factors. Therefore, the PTCH gene is an oncosuppressor that is part of the Sonic Hedgehog Homolog (Shh) signaling pathway and is crucial in embryonic development, cell division control, and tumor growth (5).

Its approximate prevalence is 1 in 57000 to 1 in 256000 and the ratio of males to females is 1:1 (6). Binkley and Johnson reported this syndrome for the first time in 1951 (7), then, in 1960, Gorlin and Goltz described the association between multiple basal cell carcinoma, odontogenic keratocysts (OKC) and bifid ribs, which account for the characteristic triad (8). In 1977, Rayner et al. added additional features, including calcification of the falx cerebri and palmar/plantar fossae (9).

According to the criteria of Kimonis et al., the diagnosis of G-G syndrome requires the coexistence of at least two major criteria or one major and two minor (10).

The characteristic that is usually diagnosed first is OKC, because it can be detected during the first decade of life and appears in almost 80% of G-G syndromes.

Other manifestations include palmar and plantar ulcers that appear as shallow pits, caused by partial or complete absence of the corneal layer, which can also appear along the sides of the hands and fingers and even on the tongue; spina bifida (10,11); medulloblastoma (can be an epiphenomenon of G-G, especially in children who are ≤5years-old) (12); cardiac tumors, including fibromas and ventricular histiocytomas, usually congenital (13); hypertelorism, congenital cataract, nystagmus, coloboma and strabismus (14); and ameloblastoma (extremely rare) (15,16).

Early diagnosis of G-G syndrome and its subsequent treatment are very important due to neoplasm susceptibility (2).

The case of a patient with a previous diagnosis of Gorlin-Goltz syndrome who presented multiple lesions compatible with basal cell carcinoma is presented below.

CASE REPORT

A 35-year-old male, living in Quito, Ecuador, without allergies; no history of tobacco or alcohol intake. His mother and his brother presented Gorlin-Goltz syndrome (G-G).

The patient presents hereditary and congenital G-G syndrome (multifocal basal cell carcinoma and maxillary keratocysts), whose manifestations began at the age of 22. He underwent surgery for bilateral keratocysts at the age of 25, and multiple biopsies of the upper left eyelid were taken since 2012. In August 2015, with a positive tumoral activity biopsy report, a wide resection involving 60% of the left upper eyelid plus flap reconstruction was performed.

Figure 1: Facial skin lesions and previous left maxillary keratocyst

Physical examination revealed multiple surgical scars on the left upper eyelid with tumoral activity on the eyelid margin, as well as on the outer third of the ipsilateral lower eyelid and on the right side.

Figure 2: Surgical scars with tumoral activity in the left and right eyelids.

In October, a wide resection of the left upper and lower eyelid was planned, plus reconstruction and transoperative study, which are performed without complications.

Figure 3 : Surgical planning

Figure 4 : Tumor resection involving the upper and lower eyelids with safety margins and surgical piece

Figure 5 : Confection of the left fronto-parietal flap

Figure 6: Immediate reconstruction results

Subsequently, the patient attended scheduled control, reporting the presence of a left superciliary nodular lesion. Physical examination revealed multiple lesions located in the left superciliary region, left helix, concha, and antihelix, in the inner corner of the left lower eyelid, in the left parieto-temporal and occipito-temporal regions, and other small bilateral genian lesions. There were no alterations in the flap. Left external campimetry was limited. It was decided to perform a facial bone and skull simple and contrasted tomography (CT) and laboratory tests.

Then, resection of the previously mentioned lesions and resection of the lower eyelid with transoperative study, shield-type incision and external canthoplasty of the lower left eyelid was planned. A plastic surgeon was included in the surgical team.

Figure 7: Shield-type incision

Altogether, 9 skin lesions located in the left superciliary, left frontal, interparietooccipital, posterior occipital, auricular, and left retroauricular regions were resected, which were positive for basal cell carcinoma.

In the subsequent control, the patient's campimetry showed improvement.

Figure 8 : Final result

DISCUSSION

Reports about Gorlin-Goltz syndrome are scarce in the literature (17). The rarity and phenotypic variability of this syndrome causes a delay in its diagnosis. Syndromicassociated keratocystic odontogenic tumors are often treated in the same way as nonsyndromic cases (18) and associated systemic signs can easily be missed due to lack of understanding of the syndrome. In addition, their characteristics vary globally, so doctors and even dentists must identify them in a timely manner, considering those that are more prevalent in their population or similar populations (19,20).

The pathogenesis of basal cell carcinoma (BCC) is thought to involve increased sensitivity to ultraviolet light and to involve ineffective mechanisms that repair UVinduced DNA damage. In any case, this theory is not accepted by all authors since these lesions can also appear in areas that have not been exposed to sunlight. Especially in children, patients with G-G syndrome who undergo radiotherapy for other cancers have shown to be at increased risk of radiation-induced BCC (21).

In 50% of patients with G-G syndrome, jaw keratocysts appear, characterized by a thin surrounding layer of epithelial cells, which tend to reappear locally after excision in 6 to 60% of cases, therefore, the indication for surgery should be carefully considered, also due to the possibility of intensive clinical and instrumental monitoring (22).

In recent years, new drugs have been developed to inhibit certain components of the sonic hedgehog signaling pathway. In 2013, the FDA approved vismodegib, the first small molecule to target this pathway (11). Although these agents seem promising options for patients with G-G syndrome, their efficacy is limited by adverse effects and the development of resistance (23). Logically, a more aggressive approach is necessary if basal cell carcinoma is suspected; subsequently, depending on the lesion site and the surgery type, a reconstruction can be performed, as in the case presented in this article (24,25).

CONCLUSION

Gorlin-Goltz syndrome encompasses a variety of clinical signs and symptoms, including important oral manifestations and skin lesions that must be recognized to achieve early referral to a specialty, thus reducing the risk of malignancy through multidisciplinary treatment.

Ethical responsibilities

In this case report, the informed consent of the patient was obtained. Its elaboration and all the inherent details were based on the Declaration of Helsinki.

Financing

Self-financed

Conflict of interests

The authors declare the non-existence of conflicts of interest.

For more information: https://jmedcasereportsimages.org/about-us/

For more submission : https://jmedcasereportsimages.org/

[reapersynth]

Did you see that someone doxxed turbodriver because he dared to be on vacation and not immediately updating his mods? Absolutely deranged behavior. Simmers can be insane and I do not appreciate it

yes, unfortunately 😭 it never ceases to amaze me how toxic the sims community can be.... the entitlement is unreal

like im sorry but if you're literally doxxing and threatening someone because YOU were dumb enough to update your game fully aware it would break your essential mods, you need a new hobby. preferably one offline. turbodriver already stated wayyy ahead of time they would be on holiday when the ptch drops and to expect a wait. you dont need to watch your sims have sex that bad.

the amount of dumb comments i see on mod pages is astounding too. so many ppl modding their games but not knowing anything about modding/being computer literate enough to follow directions. i would become so Evil if I was a big sims modder i stg. i would not be surprised if deaderpool shut down the discord server for a whole month after this 😭 the behavior just keeps getting worse

[them4gicchristian]

how my friends look at me when i talk about my dad’s weird “2 down 2 to go” beatles back ptch that is merch for a band but he doesn’t listen to the band he just hates the beatles in fromt of the 10/10 baddies

[canneddolts]

hello

i need to talk abt my stupid playlist

ignore that its youtube i dont like spotify. its songs that remind me of the half lifers so not really a character playlist but i have Reasons that id like to expadn on (under the cut its so long)

goinog from bottom to top oldest to newest (ill probably edit this later on..muhahaha) (PS every barney here is blue shift exclusive idk a thing abt hl2 guy...)

more than a feeling: i found my first ever boston song on guitar hero arcade and i feel like gordon would be rly into guitar hero. this is repeated many times. also it j reminds me of them

dont you forget abt me: ok im starting to kinda hate this song but it was the original them song too......i forgot why (it was also in one of my gmods i think)

take a chance on me: i posted this stupid barney image to this song & it stuck so much also PLEASE banrey JUST ONE CHANCE GIVE M

ok next 3 (true & the sun always shines on tv & i want to know what love is) theyre all just them songs too.....i posted them to those songs too when i was Just Getting Into Halflifing and idk

OH ALSO ALSO the sun shines on tv reminds me of the truman show & i saw a lot of parallels btwn him and gordons whole Thing so therefore. gordon song. ALSO I LOVE THIS MOVIE SO BAD!!!!!!!!!!!!!!!!!!!!!!!! UUUGHGHHHHH its so pretty and so good and such a good story and AARGH

mud on the tires: dont look at m

italian medley: I HAVE NO IDEA!!!!!????!?

cant fight this feeling: i heard it on the radio during driving lessons while i was at the Point where everything reminded me of barney. so..i could do some deep analysis (same w half this playlist but i feel silly doing so)

bulls on parade: bwaowo ptch waowao THE MICROPHONE EXPLODE (i had a video idea w gordon) (ALSO another guitar hero song for mr freeman)

owner of a lonely heart: they are losers

call me: guh. i like this song

ogrodu serce: again.....i heard it on the radio in my barney stage. i also hc'd him with a super thick southern polish accent for a while (?) i was gonna put oczy zielone bc Ha! Gordon freeman green eyes but i dont like that song

007 WOAH why were the numbers so big??!!!: i really haveno idea....something something security guard

somebodys watching me: THAT ONE FUCKING HALF LIFE FANART ILL REBLOG IT AGAINAGAINAGAINAGAIN AFTER THIS POST I LOVE IT SO BAD!!!!!!! its so good and so ppgpfhddbdhbbhjbhjbhjvbhjdbhjbhj AAAAGH i like thsi song too but its always gonna remind me of mr freeman

unwritten: dude Idk. barney though

arthur intro idk: the video w gman singing it to alyx....so real so true idk much abt her but im getting hl2 from the library soon MUUAAAAHAHAHAHAAAA (this is one of the half life specific songs)

just the way you are: hey you guys remember the video of barney;s va as the gecko singing dont goooo changinnnah. its also a gordon song bc it was in my gordon stasis gmod vid

the picard video: barney has a star wars voiceline ("Have you seen the new IG-88?" (the droid)) and i think hed like sci fi in general....idk anything abt either franchises though spare me

out of touch: i had a vision of them luckystar dancing to this song while eating cereal

lay all your love on me: i like this song & barney is very abba fan to me

even the nights are better: again again...i heard it on the radio

waiting for tonight: this video of the american idol gba game was stuck in my head for days & i feel like barney would be a bad singer. his voice acter is super good at singing cough go to mike shapiro soundcloud NOW cough so i think the opposite would be funny

escape (the pina colada song): barney.. if you like pina coladaaas

baby come back: uuurrggggh gordon freeman 20 year stasis uuurrrr

cheri cheri lady: another gman singing this video also i like this song!!!!!

the sign: real

[tenpixelsusie]

yeahahahah whats up we’re standing in the askbox beatboxing noise ppshs ptch prch ppsshs bow bow bbaba bow psh bow bow I kissed your father. sorry.

YOU WHAT

[hukber]

guitar and then heart beat and then drum Badadadababababddad Beeeeeewwwwwwwwwwww ptch pt snhzjajxjsjajdjhfshjsbfd zor zor zor zing heartbeat Ambience... BABAABBABA RAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA WWEEETAAAAAHHHHH BREA BREAK EM TRAAAAAAAAAAAA SUCK ? DR? UH WAAAAAAA ARRRRRRRR

[arcadequeerz]

oh Yea oh Boy what if I watched a horror movie right now- in the ptch black darkness of my living room.

[meowkotoyuki]

why does the l o tsugu mono english ptch not wrk for me 😿😿😿😿😿😿😿😿😿😿😿😿

[yeast-papers]

The Ptch methylase installs an m3U modification on 28S rRNA for efficient protein synthesis in flies and men

BioRxiv: http://dlvr.it/T8wpjp

[ribosome-papers]

The Ptch methylase installs an m3U modification on 28S rRNA for efficient protein synthesis in flies and men

bioRxiv: http://dlvr.it/T8wn0w

[mesetacadre]

all roads and no belts... ptch, typical chinese treachery

[autistickfigure]

i spearmuster the words.. Ptch (spear)

[rollercoaster59]

Ptch womb,

[ithisatanytime]

ptch ch ptch ch im gonna sneak up behind ya and goose ya wife, im gonna get in my machine and fire my machine and murder you ptch tch ptch tch i have all the money you have no money ptch ch ptch ch please dont make me take a picture of myself standing next to a meter stick where the stick is standind straight and so am i and we are parrallel with one another ptch ch ptch ch